FVIII Variant References
Publications listing F8 variants are listed below with a link to their PubMed abstracts. This database also contains unpublished variants curated in the same way as published variants.
Author |
Year |
|
PubMed |
|---|---|---|---|
| Abdul-Ghafar A | 2010 | Ten novel factor VIII (F8C) mutations in eighteen haemophilia A families detected in Singapore. | 20028422 |
| Abu-Amero KK | 2008 | Spectrum of factor VIII mutations in Arab patients with severe haemophilia A. | 18371166 |
| Acquila M | 1993 | Two novel mutations at 373 codon of FVIII gene detected by DGGE. | 8497853 |
| Acquila M | 2004A | Duplication of exon 13 causes one third of the cases of mild hemophilia A in northern Italy. | 15194549 |
| Acquila M | 2004B | Identification of mutations in exon 14 including five novelties in 13 Italian patients with haemophilia A. | 15569173 |
| Acquila M | 2008 | MLPA assay in F8 gene mutation screening. | 18312364 |
| Ahmed RP | 2005 | Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A. | 15710596 |
| Akkarapatumwong V | 2000 | Mutations of the factor VIII gene in thai hemophilia A patients. | 10612839 |
| Akkarapatumwong V | 2000 | Frameshift mutations with severe and moderate clinical phenotypes in Thai hemophilia A patients. | 11102988 |
| Albanez S | 2011 | Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations. | 21371196 |
| Aly AM | 1992 | Hemophilia A due to mutations that create new N-glycosylation sites. | 1594597 |
| Antonarakis SE | 1985 | Hemophilia A. Detection of molecular defects and of carriers by DNA analysis. | 2993888 |
| Arai M | 1989 | Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine). | 2498882 |
| Arai M | 1990 | Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A. | 2104766 |
| Arruda VR | 1995 | Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients. | 7579394 |
| Astermark J | 2005 | The Malm | 15996930 |
| Bagnall RD | 1999 | Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients. | 10606882 |
| Bardoni B | 1988 | Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor. | 2835307 |
| Barnes C | 2007 | Different clinical phenotype in triplets with haemophilia A. | 17286775 |
| Bauduer F | 2001 | Mild haemophilia A discovered in a previously multi-operated 73-year-old man: characterization of a new mutation. | 11442647 |
| Becker J | 1996 | Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. | 8644728 |
| Berber E | 2006 | Sequencing of the factor 8(F8) coding regions in 10 Turkish hemophilia A patients reveals three novel pathological mutations, and one rediagnosis of von Willebrand's disease type 2N. | 16834740 |
| Berber E | 2006 | DNA microarray analysis for the detection of mutations in hemophilia A. | 16879218 |
| Berg LP | 1990 | Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA. | 2121641 |
| Bernardi F | 1988 | A HindIII RFLP and a gene lesion in the coagulation factor VIII gene. | 2896159 |
| Bernardi F | 1989 | A recurrent missense mutation (Arg----Gln) and a partial deletion in factor VIII gene causing severe haemophilia A. | 2493803 |
| Bernstaedt M | 2009 | Haemophiliac pseudotumour: two case reports of patients with moderate haemophilia A. | 19437366 |
| Bicocchi MP | 2003 | Analysis of 18 novel mutations in the factor VIII gene. | 12930394 |
| Bicocchi MP | 2005 | Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations. | 15682412 |
| Bicocchi MP | 2005 | Ectopic mRNA analysis and molecular modelling substantiate severe haemophilia in a patient with a FVIII gene splice mutation. | 15711765 |
| Bicocchi MP | 2005 | Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A. | 15741993 |
| Bidichandani SI | 1994 | Characterisation of a 5-bp deletion in exon 4 of the factor VIII gene: concordance with slipped-mispairing at DNA replication. | 7927348 |
| Bidichandani SI | 1994 | A novel splice donor mutation affecting position +3 in intron 6 of the factor VIII gene. | 8069313 |
| Bidichandani SI | 1995 | Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype. | 7759074 |
| Boekhorst J | 2005 | Thirteen novel mutations in the factor VIII gene in the Nijmegen haemophilia A patient population | 16173970 |
| Bogdanova N | 2001 | Seven novel and four recurrent point mutations in the factor VIII (F8C) gene. | 11748850 |
| Bogdanova N | 2002 | Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A. | 12204009 |
| Bogdanova N | 2005 | Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A. | 16086318 |
| Bogdanova N | 2007 | Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A. | 16972227 |
| Borchiellini A | 2010 | A novel point mutation in severe haemophilia A: a further proof of genotype-phenotype correlation. | 20015216 |
| Bowyer AE | 2011 | p.Tyr365Cys change in factor VIII: haemophilia A, but not as we know it. | 21751985 |
| Brocker-Vriends AH | 1990 | Somatic origin of inherited haemophilia A. | 1975557 |
| Cai XH | 2006 | Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII. | 16805874 |
| Casana P | 2008 | Severe and moderate hemophilia A: identification of 38 new genetic alterations. | 18403393 |
| Casey GJ | 1999 | Grandpaternal mosaicism in a family with isolated haemophilia A. | 10583258 |
| Castaman G | 2007 | Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene. | 17498081 |
| Castaman G | 2009 | Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A. | 19719828 |
| Castaman G | 2010 | F8 mRNA studies in haemophilia A patients with different splice site mutations. | 20398075 |
| Castaman G | 2011 | Deep intronic variations may cause mild hemophilia A. | 21689372 |
| Casula L | 1990 | Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent. | 2105106 |
| Chan V | 1989 | A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A. | 2510835 |
| Chan V | 1996 | Molecular characterization of haemophilia A in southern Chinese. | 8639447 |
| Chen YC | 2010 | Genetic analysis of haemophilia A in Taiwan. | 20236351 |
| Chetta M | 2008 | Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization. | 20300295 |
| Cid AR | 2007 | Inhibitor development in one patient and laboratory discrepancies in several families with both mild haemophilia and Arg531Cys mutation. | 17286776 |
| Cid AR | 2007 | Treatment in a haemophiliac A patient with paroxysmal atrial fibrillation and ischemic heart disease. | 17973853 |
| Cid AR | 2008 | One-stage and chromogenic FVIII:C assay discrepancy in mild haemophilia A and the relationship with the mutation and bleeding phenotype. | 18540892 |
| Citron M | 2002 | High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation. | 12325022 |
| Coppola A | 2009 | Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction of hemophilia A patients with high-responding inhibitors. | 19740093 |
| Cutler JA | 2002 | The identification and classification of 41 novel mutations in the factor VIII gene (F8C). | 11857744 |
| Cutting GR | 1988 | Accuracy and limitations of pulsed field gel electrophoresis in sizing partial deletions of the factor VIII gene. | 3149710 |
| Dai L | 2008 | Characterization of a causative mutation of hemophilia A identified in the promoter region of the factor VIII gene (F8). | 17944985 |
| David D | 1994 | Analysis of the essential sequences of the factor VIII gene in twelve haemophilia A patients by single-stranded conformation polymorphism. | 8054459 |
| David D | 1995 | Characterization of a splicing mutation in the factor VIII gene at the RNA level. | 7814012 |
| David D | 2006 | The spectrum of mutations and molecular pathogenesis of hemophilia A in 181 Portuguese patients. | 16769589 |
| Diamond C | 1992 | Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A. | 1301932 |
| Djambas Khayat C | 2008 | Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation. | 18479430 |
| dOiron R | 2004 | Deletion of alanine 2201 in the FVIII C2 domain results in mild hemophilia A by impairing FVIII binding to VWF and phospholipids and destroys a major FVIII antigenic determinant involved in inhibitor development. | 12969981 |
| Eckhardt CL | 2009 | Intensive peri-operative use of factor VIII and the Arg593-->Cys mutation are risk factors for inhibitor development in mild/moderate hemophilia A. | 19548904 |
| Economou EP | 1992 | Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP). | 1639429 |
| El-Maarri O | 2005 | Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene. | 15670040 |
| Ettinger RA | 2010 | HLA-DR-restricted T-cell responses to factor VIII epitopes in a mild haemophilia A family with missense substitution A2201P. | 20536985 |
| Fabiano C | 2010 | Novel human pathological mutations. Gene symbol: F8. Disease: Haemophilia A. | 20108389 |
| Faridi NJ | 2011 | Identification of missense mutations in exon 16 of factor VIII gene in mild and moderate cases with hemophilia A. | 20460344 |
| Favier R | 2000 | Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female. | 11110718 |
| Fernandez-Lopez O | 2005 | The spectrum of mutations in Southern Spanish patients with hemophilia A and identification of 28 novel mutations. | 15921397 |
| Fernandez-Lopez O | 2007 | Characterization of sequence breakpoints in two haemophiliac patients with large FVIII gene deletions. | 17880466 |
| Fidanci ID | 2008 | Factor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitors. | 18600086 |
| Figueiredo MS | 1992 | A novel deletion of FVIII gene associated with variable levels of FVIII inhibitor. | 1559571 |
| Figueiredo MS | 1994 | Large DNA inversions, deletions, and TaqI site mutations in severe haemophilia A. | 7959679 |
| Fijnvandraat K | 1997 | The missense mutation Arg593 --> Cys is related to antibody formation in a patient with mild hemophilia A. | 9192760 |
| Fogel BL | 2008 | A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes. | 18481121 |
| Franchini M | 2006 | Tyr2105Cys mutation in exon 22 of FVIII gene is a risk factor for the development of inhibitors in patients with mild/moderate haemophilia A. | 16834751 |
| Freson K | 1998 | Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene. | 9603440 |
| Frusconi S | 2002 | Identification of seven novel mutations of F8C by DHPLC. | 12203998 |
| Ganguly A | 2003 | Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A. | 12884004 |
| Garcia-Lozano JR | 2007 | Novel human pathological mutations. Gene symbol: F8. Disease: haemophilia A. | 18350668 |
| Gau JP | 2003 | A novel splicing acceptor mutation of the factor VIII gene producing skipping of exon 25. | 12634951 |
| Gau JP | 2006 | Nucleotide changes around the splicing acceptor of intron 24 in the factor VIII gene and its impact on splicing. | 16607080 |
| Gitschier J | 1985 | Detection and sequence of mutations in the factor VIII gene of haemophiliacs. | 2987704 |
| Gitschier J | 1986 | Identification of a missense mutation in the factor VIII gene of a mild hemophiliac. | 3012775 |
| Gitschier J | 1988 | Maternal duplication associated with gene deletion in sporadic hemophilia. | 2901224 |
| Gitschier J | 1988 | Mutations of factor VIII cleavage sites in hemophilia A. | 3137981 |
| Gitschier J | 1989 | Mosaicism and sporadic haemophilia: implications for carrier determination. | 2563431 |
| Goodeve AC | 2000 | Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate). Recombinate PUP Study Group. | 10896236 |
| Gouw SC | 2011 | Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients. | 21070499 |
| Graham JB | 1990 | The utility of a HindIII polymorphism of factor VIII examined by rapid DNA analysis. | 1977469 |
| Green PM | 2008 | Haemophilia A mutations in the UK: results of screening one-third of the population. | 18691168 |
| Grover H | 1987 | Carrier detection of haemophilia A using DNA markers in families with an isolated affected male. | 2887317 |
| Guillet B | 2006 | Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution. | 16786531 |
| Habart D | 2003 | Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions. | 12871415 |
| Habart D | 2006 | [Evaluation of DHPLC analysis for mutation detection in haemophilia A]. | 16836003 |
| Han JY | 2007 | Identification of factor VIII gene mutations and carrier detection in Korean haemophilia A patients. | 17498085 |
| Hay CR | 1998 | Factor VIII inhibitors in mild and moderate-severity haemophilia A. UK Haemophilia Centre Directors Organisation. | 9569189 |
| He Z | 2010 | Prenatal diagnosis of hemophilia A, presenting a new mutation in the FVIII gene. | 20018532 |
| Higuchi M | 1988 | A somatic mosaic for haemophilia A detected at the DNA level. | 3131627 |
| Higuchi M | 1989 | Molecular defects in hemophilia A: identification and characterization of mutations in the factor VIII gene and family analysis. | 2473810 |
| Higuchi M | 1990 | Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA. | 2105906 |
| Higuchi M | 1991 | Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. | 1908096 |
| Higuchi M | 1991 | Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis. | 1924291 |
| Hill M | 2005 | Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype. | 15810915 |
| Hongli W | 2006 | Gene symbol: F8. Disease: F8. | 17128472 |
| Hua BL | 2010 | Identification of seven novel mutations in the factor VIII gene in 18 unrelated Chinese patients with hemophilia A. | 20193250 |
| Hwang SH | 2009 | Profiling of factor VIII mutations in Korean haemophilia A. | 19719548 |
| Hwang SH | 2011 | Identification of a shared F8 mutation in the Korean patients with acquired hemophilia A. | 21461305 |
| Inaba H | 1989 | Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene. | 2495245 |
| Ivaskevicius V | 2001 | Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data. | 11298607 |
| Jacquemin M | 2000 | A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor. | 10910910 |
| Jayandharan GR | 2005 | Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions. | 16128892 |
| Jayandharan GR | 2009 | Polymorphism in factor VII gene modifies phenotype of severe haemophilia. | 19686262 |
| Johnsen JM | 2017 | Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative. | 29296726 |
| Johnson DJ | 1994 | Factor VIII S373L: mutation at P1' site confers thrombin cleavage resistance, causing mild haemophilia A. | 8052958 |
| Jonsdottir S | 1992 | Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis. | 1301960 |
| Kamisue S | 1994 | Abnormal factor VIII Hiroshima: defect in crucial proteolytic cleavage by thrombin at Arg1689 detected by a novel ELISA. | 8011517 |
| Kazazian HH Jr | 1988 | Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. | 2831458 |
| Keeling DM | 1999 | Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain. | 10554831 |
| Kentsis A | 2009 | Discordant haemophilia A in male siblings due to a de novo mutation on a familial missense mutant allele. | 19456877 |
| Kenwrick S | 1991 | A TaqI polymorphism adjacent to the factor VIII gene (F8C). | 1675002 |
| Kim HJ | 2011 | Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array. | 21993689 |
| Klopp N | 2002 | 11 hemophilia A patients without mutations in the factor VIII encoding gene. | 12195713 |
| Knobe KE | 2000 | Factor VIII inhibitors in two families with mild haemophilia A: structural analysis of the mutations. | 11251334 |
| Kogan S | 1990 | Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis. | 2107542 |
| Krepelova A | 1992 | GAA(Glu)272----AAA(Lys) and CGA(Arg)1941----CAA(Gln) in the factor VIII gene in two haemophilia A patients of Czech origin. | 1356412 |
| Krepelova A | 1992 | Factor VIII gene deletions in haemophilia A patients in Czechoslovakia. | 1643024 |
| Lalloz MR | 1991 | Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene. | 1676778 |
| Lalloz MR | 1994 | Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene. | 7918076 |
| Lannoy N | 2009 | Identification of de novo deletion in the factor VIII gene by MLPA technique in two girls with isolated factor VIII deficiency. | 19432928 |
| Lannoy N | 2012 | Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A. | 21883705 |
| Laprise SL | 1998 | Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene. | 9829908 |
| Laurie AD | 2007 | The molecular aetiology of haemophilia A in a New Zealand patient group. | 17610560 |
| Laurie AD | 2009 | Effect of the F8 mutation c.1538-2A>T on pre-mRNA splicing. | 19678855 |
| Lavergne JM | 1992 | A directed search for mutations in hemophilia A using restriction enzyme analysis and denaturing gradient gel electrophoresis. A study of seven exons in the factor VIII gene of 170 cases. | 1523102 |
| Leuer M | 2001 | Somatic mosaicism in hemophilia A: a fairly common event. | 11410838 |
| Levinson B | 1987 | A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences. | 3122181 |
| Levinson B | 1990 | Molecular analysis of hemophilia A mutations in the Finnish population. | 2104741 |
| Li W | 2011 | [Mutation screening of the F VIII gene in 10 hemophilia A families]. | 21462120 |
| Liang Y | 2009 | Prenatal diagnosis of haemophilia A in China. | 19399824 |
| Lin SW | 1993 | Characterization of genetic defects of hemophilia A in patients of Chinese origin. | 8307558 |
| Lin SY | 2008 | Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM. | 18565236 |
| Liu J | 1997 | [Molecular characterization of genetic defects in hemophilia in Shanghai]. | 15625837 |
| Liu M | 1998 | A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins. | 9886318 |
| Liu ML | 2000 | Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure. | 10910913 |
| Liu ML | 2002 | Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses. | 11858487 |
| Liu T | 2005 | Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. | 16335952 |
| Ljung RC | 1999 | Origin of mutation in sporadic cases of haemophilia A. | 10519986 |
| Lombardi AM | 2004 | A large deletion due to a new mutation (intron 13/exon 23) in a sporadic case of severe hemophilia A. | 14979407 |
| Loreth RM | 2006 | Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene. | 16601852 |
| Lucia JF | 2005 | Discrepant factor VIII activity in a family with mild haemophilia A and 531 mutation using various FVIII assays and APTT reagents. | 16128904 |
| Lyall H | 2008 | Tyr346-->Cys mutation results in factor VIII:C assay discrepancy and a normal bleeding phenotype - is this mild haemophilia A? | 18034822 |
| Ma GC | 2008 | The spectrum of the factor 8 (F8) defects in Taiwanese patients with haemophilia A. | 18371163 |
| Mainwaring CJ | 2006 | Normalization of factor VIII levels in a patient with mild haemophilia A during a 35-year period. | 17083519 |
| Margaglione M | 2008 | The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype. | 18387975 |
| Markoff A | 2009 | Combined homology modelling and evolutionary significance evaluation of missense mutations in blood clotting factor VIII to highlight aspects of structure and function. | 19473423 |
| Martin-Salces M | 2010 | Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser. | 20664893 |
| Maugard C | 1998 | Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts. | 9450898 |
| Mazurier C | 1997 | Mutations in the FVIII gene in seven families with mild haemophilia A. | 9029040 |
| Mazurier C | 2002 | Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A. | 12406074 |
| McGinniss MJ | 1993 | Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A. | 8449505 |
| McMullen BA | 1995 | Locations of disulfide bonds and free cysteines in the heavy and light chains of recombinant human factor VIII (antihemophilic factor A). | 7613471 |
| Mikami S | 1988 | A deletion involving intron 13 and exon 14 of factor VIII gene in a haemophiliac with anti-factor VIII antibody. | 3150767 |
| Mikami S | 1988 | Nonsense mutation in factor VIII gene of a severe haemophiliac patient with anti-factor VIII antibody. | 3150768 |
| Millar DS | 1990 | The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene. | 2125022 |
| Millar DS | 1991 | The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI. | 1840568 |
| Moller-Morlang K | 1999 | Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation. Mutations in brief no. 245. Online. | 10408784 |
| Morado M | 2010 | Novel human pathological mutations. Gene symbol: F8. Disease: haemophilia A. | 21488286 |
| Morichika S | 1997 | Factor VIII gene analysis in Japanese CRM-positive and CRM-reduced haemophilia A patients by single-strand conformation polymorphism. | 9326186 |
| Muhle C | 2007 | Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X-chromosomal rearrangements causing hemophilia A. | 17823971 |
| Mumford AD | 2002 | A Tyr346-->Cys substitution in the interdomain acidic region a1 of factor VIII in an individual with factor VIII:C assay discrepancy. | 12139751 |
| Murru S | 1990 | Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A. | 2159433 |
| Murru S | 1994 | A DNA fragment from Xq21 replaces a deleted region containing the entire FVIII gene in a severe hemophilia A patient. | 7835884 |
| Nafa K | 1990 | Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria. | 1969840 |
| Nafa K | 1992 | A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A. | 1301194 |
| Nafa K | 1995 | Screening for mutations in factor VIII gene using the single-strand conformation polymorphism. | 7627196 |
| Nair PS | 2010 | Molecular pathology of haemophilia A in Indian patients: identification of 11 novel mutations. | 20800587 |
| Nakaya S | 2001 | Some factor VIII exon 14 frameshift mutations cause moderately severe haemophilia A. | 11843836 |
| Nakaya SM | 2004 | Severe hemophilia A due to a 1.3 kb factor VIII gene deletion including exon 24: homologous recombination between 41 bp within an Alu repeat sequence in introns 23 and 24. | 15550025 |
| Nath SV | 2010 | Discrepancy in factor VIII 1-stage/2-stage activity in a child with Arg(531)--> His mutation. | 20614574 |
| Naylor JA | 1991 | Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene. | 1671991 |
| Naylor JA | 1993 | Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients. | 8490618 |
| Niazi G | 2009 | Novel human pathological mutations. Gene symbol: F8. Disease: Haemophilia A. | 19693997 |
| Niceta M | 2010 | Novel human pathological mutations. Gene symbol: F8. Disease: Haemophilia A. | 20108391 |
| Ogata K | 2011 | Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: implications for genotyping. | 21645226 |
| Onsori H | 2007 | Identification of a novel missense mutation in exon 4 of the human factor VIII gene associated with sever hemophilia A patient. | 19086591 |
| Onsori H | 2011 | A novel mutation (4040-4045 nt. delA) in exon 14 of the factor VIII gene causing severe hemophilia A. | 22345999 |
| Owaidah TM | 2009 | Molecular genotyping of hemophilia A in Saudi Arabia: report of 2 novel mutations. | 19448530 |
| Pattinson JK | 1990 | CRM+ haemophilia A due to a missense mutation (372----Cys) at the internal heavy chain thrombin cleavage site. | 1973901 |
| Pattinson JK | 1990 | The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene. | 1979502 |
| Pautard B | 2011 | Successful immune tolerance induction by FVIII in hemophilia A patients with inhibitor may occur without deletion of FVIII-specific T cells. | 21645224 |
| Pavlova A | 2008 | Heterozygous large deletions of Factor 8 gene in females identified by multiplex PCR-LC. | 18218012 |
| Pavlova A | 2009 | Molecular mechanisms underlying hemophilia A phenotype in seven females. | 19302446 |
| Paynton C | 1991 | Identification of mutations in two families with sporadic hemophilia A. | 1908817 |
| Pieneman WC | 1993 | Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene. | 8322269 |
| Pieneman WC | 1995 | Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients. | 7794769 |
| Qin HH | 2011 | [Molecular analysis of a patient with hemophilia A caused by FVIII His99Arg mutation]. | 22338150 |
| Rafati M | 2011 | Identification of ten large deletions and one duplication in the F8 gene of eleven unrelated Iranian severe haemophilia A families using the multiplex ligation-dependent probe amplification technique. | 21371190 |
| Ranjan R | 2008 | Importance of investigating somatic and germline mutations in hemophilia A: a preliminary study from All India Institute of Medical Sciences, India. | 18191040 |
| Ravanbod S | 2011 | Identification of 123 previously unreported mutations in the F8 gene of Iranian patients with haemophilia A. | 22117735 |
| Reiner AP | 1992 | Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection. | 1349567 |
| Reiner AP | 1992 | Three missense mutations in Arg codons of the factor VIII genes of mild to moderately severe hemophilia A patients. | 1412186 |
| Reitter S | 2010 | Spectrum of causative mutations in patients with haemophilia A in Austria. | 20431853 |
| Repesse Y | 2007 | Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development. | 17445092 |
| Riccardi F | 2009 | Characterization of a novel mutation in the F8 promoter region associated with mild hemophilia A and resistance to DDAVP therapy. | 19422439 |
| Rodgers SE | 2007 | In vitro kinetics of factor VIII activity in patients with mild haemophilia A and a discrepancy between one-stage and two-stage factor VIII assay results. | 17222201 |
| Roelse JC | 2000 | Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A. | 10691849 |
| Rossetti LC | 2004 | Homeologous recombination between AluSx-sequences as a cause of hemophilia. | 15459970 |
| Rossetti LC | 2007 | Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects. | 17550859 |
| Rost S | 2008 | Detection of large duplications within the factor VIII gene by MLPA. | 18752578 |
| Roth L | 2011 | Characterisation of two novel large F8 deletions in patients with severe haemophilia A and factor VIII inhibitors. | 21103668 |
| Ruan C | 1997 | Detection by denaturing gradient gel electrophoresis of an Arg1689Cys mutation in a Chinese patient with mild hemophilia A. | 9594277 |
| Rudzki Z | 1996 | Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods. | 8759905 |
| Salviato R | 2002 | Large FVIII gene deletion confers very high risk of inhibitor development in three related severe haemophiliacs. | 11886460 |
| Salviato R | 2007 | F8 gene mutation profile and ITT response in a cohort of Italian haemophilia A patients with inhibitors. | 17610549 |
| Sanchez-Garcia JF | 2006 | A versatile strategy for preimplantation genetic diagnosis of haemophilia A based on F8-gene sequencing. | 17139381 |
| Sanna V | 2008 | Mutational spectrum of F8 gene and prothrombotic gene variants in haemophilia A patients from Southern Italy. | 18459951 |
| Santacroce R | 2008A | Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy. | 18388498 |
| Santacroce R | 2008B | Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A | 18217193 |
| Santacroce R | 2009 | Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification. | 19715469 |
| Santagostino E | 1995 | Inhibitors to factor VIII in a family with mild hemophilia: molecular characterization and response to factor VIII and desmopressin. | 8584995 |
| Santagostino E | 2010 | Severe hemophilia with mild bleeding phenotype: molecular characterization and global coagulation profile. | 20102490 |
| Scanavini D | 2005 | The factor VIII D1241E polymorphism is associated with decreased factor VIII activity and not with activated protein C resistance levels. | 15735794 |
| Schneppenheim R | 2009 | The problem of novel FVIII missense mutations for haemophilia A genetic counseling. | 19404520 |
| Schwaab R | 1990 | Identical point mutations in the factor VIII gene that have different clinical manifestations of hemophilia A. | 2121026 |
| Schwaab R | 1991 | Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain. | 1851341 |
| Schwaab R | 1993 | Mutations in haemophilia A. | 8485051 |
| Schwaab R | 1995 | Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs. | 8547094 |
| Schwaab R | 1995 | Haemophilia A: mutation type determines risk of inhibitor formation. | 8772209 |
| Schwaab R | 1997 | Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein. | 9439662 |
| Schwaab R | 2000 | Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family. | 10886198 |
| Severs JC | 1999 | Characterization of tyrosine sulfate residues in antihemophilic recombinant factor VIII by liquid chromatography electrospray ionization tandem mass spectrometry and amino acid analysis. | 10368977 |
| Sharathkumar A | 2003 | Intensive exposure to factor VIII is a risk factor for inhibitor development in mild hemophilia A. | 12871324 |
| Sheen CR | 2007 | Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication. | 17683067 |
| Shetty S | 1998 | Molecular characterization of haemophilia A & B in Indians. | 10028301 |
| Shibata M | 2000 | An alloantibody recognizing the FVIII A1 domain in a patient with CRM reduced haemophilia A due to deletion of a large portion of the A1 domain DNA sequence. | 11019969 |
| Shima M | 1989 | An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule. | 2506948 |
| Siddiq S | 2011 | F8 and F9 mutations fail to co-segregate in a family with co-incident haemophilia A and B. | 20860608 |
| Sirocova N | 2009 | Factor VIII mutations in 42 Moldovan haemophilia A families, including 12 that are novel. | 19473408 |
| Song MJ | 2011 | Molecular characterization of female hemophilia A by multiplex ligation-dependent probe amplification analysis and X-chromosome inactivation study. | 21297454 |
| Strmecki L | 1998 | A novel mutation Q602STOP in exon 12 of the FVIII gene. | 9526172 |
| Strmecki L | 1999 | Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum. Mutation in brief no. 241. Online. | 10338101 |
| Sukarova E | 2001 | An Alu insert as the cause of a severe form of hemophilia A. | 11713379 |
| Sukarova-Stefanovska E | 2002 | Three novel point mutations causing haemophilia A. | 12199686 |
| Summers RJ | 2011 | Factor VIII A3 domain substitution N1922S results in hemophilia A due to domain-specific misfolding and hyposecretion of functional protein. | 21217077 |
| Suzuki H | 1997 | Factor VIII Ise (R2159C) in a patient with mild hemophilia A, an abnormal factor VIII with retention of function but modification of C2 epitopes. | 9184393 |
| Tagariello G | 2000 | Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis. | 10800171 |
| Tarpey PS | 2009 | A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. | 19377476 |
| Tavassoli K | 1997 | Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations. | 9341862 |
| Tavassoli K | 1998 | Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC). | 9452104 |
| Tavassoli K | 1998 | Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping. | 9792405 |
| Tavassoli K | 1999 | A deletion/insertion leading to the generation of a direct repeat as a result of slipped mispairing and intragenic recombination in the factor VIII gene. | 10394938 |
| Theophilus BD | 1998 | Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophila A with different phenotypes. Mutations in brief no. 126. Online. | 10215414 |
| Theophilus BD | 2001 | Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A. | 11442643 |
| Theophilus BD | 2011 | Deletions and duplications in the factor VIII gene identified using multiplex ligation-dependent probe amplification. | 1143378 |
| Thompson AR | 1997 | Loss of tolerance to exogenous and endogenous factor VIII in a mild hemophilia A patient with an Arg593 to Cys mutation. | 9292523 |
| Tiede A | 2010 | Acquired haemophilia caused by non-haemophilic factor VIII gene variants. | 20054547 |
| Timur AA | 2001 | Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations. | 11554935 |
| Tizzano EF | 2005 | First report of two independent point factorVIII mutations in a family with haemophilia a: a word of caution for carrier diagnosis. | 16268489 |
| Traystman MD | 1990 | Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene. | 2106480 |
| Trossaert M | 2008 | Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype. | 18047548 |
| Trossaërt M | 2011 | Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity. | 21166991 |
| Valleix S | 2002 | Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. | 12351418 |
| Van de Water N | 1998 | A 20.7 kb deletion within the factor VIII gene associated with LINE-1 element insertion. | 9609225 |
| Vencesla A | 2008A | Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites. | 18184865 |
| Vencesla A | 2008B | Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene. | 18665854 |
| Vidal F | 2000 | A novel mutation (2409delT) in exon 14 of the factor VIII gene causes severe haemophilia A. | 10782022 |
| Vidal F | 2001 | Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations. | 11341489 |
| Vidal F | 2002 | First molecular characterization of an unequal homologous alu-mediated recombination event responsible for hemophilia. | 12154809 |
| Viel KR | 2007 | A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels. | 17209060 |
| Viel KR | 2009 | Inhibitors of factor VIII in black patients with hemophilia. | 19369668 |
| Vinciguerra C | 2006 | Characterisation of 96 mutations in 128 unrelated severe haemophilia A patients from France. Description of 62 novel mutations. | 16601827 |
| Vlot AJ | 2002 | Factor VIII inhibitor in a patient with mild haemophilia A and an Asn618-->Ser mutation responsive to immune tolerance induction and cyclophosphamide. | 11918545 |
| Wang XF | 2010 | The prevalence of factor VIII inhibitors and genetic aspects of inhibitor development in Chinese patients with haemophilia A. | 20331753 |
| Waseem NH | 1999 | Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch. Haemophilia Centres. | 10404764 |
| Wehnert M | 1989 | Partial deletions of factor VIII gene as molecular diagnostic markers in haemophilia A. | 2567219 |
| Williams IJ | 1998 | Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis. | 9569180 |
| Williams V | 2007 | A hemophilic son of a hemophiliac: did my son inherit my hemophilia? | 17239168 |
| Windsor S | 1995 | Severe haemophilia A in a female resulting from two de novo factor VIII mutations. | 7669670 |
| Winter PC | 2008 | A recurrent F8 mutation in Irish haemophilia A patients: evidence for a founder effect. | 18179574 |
| Wion KL | 1986 | A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A. | 3012474 |
| Woods-Samuels P | 1991 | Nonhomologous recombination in the human genome: deletions in the human factor VIII gene. | 1904396 |
| Xie YG | 2002 | A founder factor VIII mutation, valine 2016 to alanine, in a population with an extraordinarily high prevalence of mild hemophilia A. | 11848452 |
| Xue F | 2010 | Factor VIII gene mutations profile in 148 Chinese hemophilia A subjects. | 20528906 |
| Yenchitsomanus P | 2001 | Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection. | 11380640 |
| Yenchitsomanus P | 2003 | Genotype and phenotype of haemophilia A in Thai patients. | 12614369 |
| You CW | 2010 | Mutation analysis of factor VIII in Korean patients with severe hemophilia A. | 20533009 |
| Young M | 1997 | Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene. | 9042915 |
| Youssoufian H | 1986 | Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. | 3097553 |
| Youssoufian H | 1987 | Characterization of five partial deletions of the factor VIII gene. | 3035554 |
| Youssoufian H | 1988 | Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. | 2833855 |
| Youssoufian H | 1988 | Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene. | 2835904 |
| Youssoufian H | 1988 | Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene. | 2838411 |
| Youssoufian H | 1988 | Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A. | 3139545 |
| Zhang YZ | 1999 | Characterization of genetic defects of hemophilia A in mainland China. | 10609755 |
| Zhou J | 2006 | [Gene mutation analysis of coagulation factor VIII from a female patient with hemophilia A]. | 16761442 |
| Zimmermann MA | 2010 | Characterization of duplication breakpoints in the factor VIII gene. | 20735723 |