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 This database also contains unpublished variants curated in the same way as published variants.





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
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