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F5
EAHAD Factor V Variant Database

F5 DB Published References


Author Year
Title
 PubMed
Ajzner E 2002 Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of factor 5 gene 11781258
Al-Numair NS 2019 First description of the molecular and clinical characterization of hereditary factor V deficiency in Saudi Arabia: report of four novel mutations 31268865
Asselta R 2003A Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain 12871325
Asselta R 2003B The discovery of Mary's mutation 12871526
Asselta R 2004 Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation 15194551
Asselta R 2006 Coagulation factor V gene analysis in five Indian patients: identification of three novel small deletions 17145618
Bafunno V 2012 Coinheritance of three novel FV gene mutations in a patient with a severe FV deficiency 22251029
Bertina RM 1994 Mutation in blood coagulation factor V associated with resistance to activated protein C 8164741
Bezemer ID 2010 Updated analysis of gene variants associated with deep vein thrombosis 20124536
Borhany M 2019 Molecular analysis of eight severe FV-deficient patients in Pakistan: A large series of homozygous for frameshift mutations 30924984
Bossone A 2002 Factor V Arg2074Cys: a novel missense mutation in the C2 domain of factor V 12038802
Bossone A 2003 The factor V (FV) gene ASP79HIS polymorphism modulates FV plasma levels and affects the activated protein C resistance phenotype in presence of the FV Leiden mutation 12651267
Cai H 2010 A novel mutation (g2172-->c) in the factor V gene in a Chinese family with hereditary activated protein C resistance 20304467
Cai XH 2007 Factor V C1149G and 5609-10INSCGTGGTT causing factor V deficiency: molecular characterization by in-vitro expression 17849061
Calzavarini S 2013 Molecular basis of coagulation factor V deficiency caused by the R1698W inter-domain mutation 23616041
Cao L 2011 Gene analysis and prenatal diagnosis for two families of congenital factor V deficiency 20722745
Cao LJ 2008 [Gene analysis of five inherited factor V deficiency cases] 18788609
Cargill M 1999 Characterization of single-nucleotide polymorphisms in coding regions of human genes 10391209
Castaman G 1997 Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (factor V Leiden) and His1299Arg substitutions in factor V 9375735
Castoldi E 1998 Molecular bases of pseudo-homozygous APC resistance: the compound heterozygosity for FV R506Q and a FV null mutation results in the exclusive presence of FV Leiden molecules in plasma 9759618
Castoldi E 2000A Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family 10942390
Castoldi E 2000B Mutations in the R2 FV gene affect the ratio between the two FV isoforms in plasma 10744138
Castoldi E 2001 A missense mutation (Y1702C) in the coagulation factor V gene is a frequent cause of factor V deficiency in the Italian population 11418372
Castoldi E 2004 Impaired APC cofactor activity of factor V plays a major role in the APC resistance associated with the factor V Leiden (R506Q) and R2 (H1299R) mutations 14976057
Castoldi E 2011 Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma 21320286
Caudill JS 2007 Severe coagulation factor V deficiency associated with an interstitial deletion of chromosome 1q 17166249
Chan WP 1998 A novel mutation of Arg306 of factor V gene in Hong Kong Chinese 9454741
Chapla A 2011 Molecular basis of hereditary factor V deficiency in India: identification of four novel mutations and their genotype-phenotype correlation 21647534
Chegeni R 2007 Factor V mutations in Iranian patients with activated protein C resistance and venous thrombosis 16542711
Chen TY 2005 Gly392Cys missense mutation in the A2 domain of factor V causing severe factor V deficiency: molecular characterization by expression of the recombinant protein 15735820
Coppola A 2010 Management of patients with factor V deficiency: open issues from the challenging history of a woman with anaphylactic transfusion reactions 20028426
Cunha MLR 2015 A novel mutation in the F5 gene (factor V Amsterdam) associated with bleeding independent of factor V procoagulant function 25634741
Cutler JA 2010 Molecular characterization of 11 novel mutations in patients with heterozygous and homozygous FV deficiency 20546033
Dall'Osso C 2008 Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern 18728029
Dargaud Y 2003 Two novel factor V null mutations associated with activated protein C resistance phenotype/genotype discrepancy 14531918
de Visser MC 2000 The HR2 haplotype of factor V: effects on factor V levels, normalized activated protein C sensitivity ratios and the risk of venous thrombosis 10780320
Delev D 2008 Modelling and expression studies of two novel mutations causing factor V deficiency 18989519
Delev D 2009 Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency 19486170
Duckers C 2010 Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms 19861681
Duga S 2003 Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein 12393490
Duga S 2004 Coagulation factor V 15147718
Frotscher B 2012 Severe factor V deficiency in two brothers with different clinical presentations 22758216
Fu Q 2003 Type I coagulation factor V deficiency caused by compound heterozygous mutation of F5 gene 14511309
Fu QH 2004 Identification of three F5 gene mutations associated with inherited coagulation factor V deficiency in two Chinese pedigrees 15086325
Fu WJ 2003A [Identification of a novel mutation of human blood coagulation FV gene associated with congenital FV deficiency] 12697120
Fu WJ 2003B [A novel molecular mechanism of congenital FV deficiency: mutation in the intron acceptor splice site of human blood coagulation FV gene] 12757640
Gandrille S 1995 Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. The French Network on the behalf of INSERM 7795227
Guasch JF 1997 Molecular characterization of a type I quantitative factor V deficiency in a thrombosis patient that is "pseudo homozygous" for activated protein C resistance 9157576
Guasch JF 1998 Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene 9576178
Guella I 2011 Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency 21614419
Guzman N 2015 Three novel variants in the coagulation factor V gene associated with deep venous thrombosis in Chilean patients with Amerindian ethnic background 25668227
Hiyoshi M 1998 A polymorphism nt 1628G-->A (R485K) in exon 10 of the coagulation factor V gene may be a risk factor for thrombosis in the indigenous Thai population 9798997
Hou LH 2003 [A novel mutation causes congenital factor V deficiency] 14575586
Huang DD 2010 [Analysis of phenotype and genotype in four Chinese pedigrees with inherited coagulation factor V deficiency] 20510101
Jadaon MM 2006 Factor V Kuwait: a novel mutation in the coagulation factor V gene discovered in Kuwait 16484835
Jin PP 2009 Ser234Leu missense mutation in the A1 domain of factor V causing moderate factor V deficiency in a Chinese family 19900106
Jones CD 2007 Molecular characterization and subcellular localization of Tyr478del: a pathogenic in-frame deletion in coagulation factor V 17269939
Kanaji S 2009 Identification of four novel mutations in F5 associated with congenital factor V deficiency 19052695
Kling SJ 2006 Factor V deficiency caused by a novel missense mutation, Ile417Thr, in the A2 domain 16420587
Kostka H 1999 New missense mutation in exon 13 (N789T) of the coagulation factor V gene 10502835
Kostka H 2000 Frequency of polymorphisms in the B-domain of factor V gene in APC-resistant patients 10974338
Kovacs KB 2009 Inherited factor V deficiency associated with a novel heterozygous missense mutation (p.G493R) in a patient with excessive surgical bleeding 19806267
Kuang SQ 2001 Characterization of a novel autosomal dominant bleeding disorder in a large kindred from east Texas 11238089
Lak M 1998 Symptoms of inherited factor V deficiency in 35 Iranian patients 9886321
Le W 2000 Arg485Lys polymorphism of factor V increases the risk of coronary artery disease in a Chinese population 11776127
Liu HC 2014A Functional characterization of a novel missense mutation, His147Arg, in A1 domain of FV protein causing type II deficiency 24787990
Liu HC 2014B Asp68His mutation in the A1 domain of human factor V causes impaired secretion and ineffective translocation 24893683
Liu S 2020 A novel homozygous mutation (Gly1715Ser) causing hereditary factor V deficiency in a Chinese patient 31789663
Lunghi B 1996 Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma 8713778
Lunghi B 1998 A novel factor V null mutation detected in a thrombophilic patient with pseudo-homozygous APC resistance and in an asymptomatic unrelated subject 9694743
Lunghi B 2005A Does factor V Asp79His (409 G/C) polymorphism influence factor V and APC resistance levels? 15670066
Lunghi B 2005B The factor V Glu1608Lys mutation is recurrent in familial thrombophilia 15975136
Lunghi B 2008 Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency 18310546
Mirochnik O 1999 A novel factor V null mutation at Arg 506 causes a false positive Factor V Leiden result 10494790
Montefusco MC 2000A A novel two base pair deletion in the factor V gene associated with severe factor V deficiency 11167768
Montefusco MC 2000B Concerns about the mutations identified in a case of familial coagulation factor V deficiency: factor V Stanford 11154134
Montefusco MC 2003 Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations 12816860
Moret A 2019 Next generation sequencing in bleeding disorders: two novel variants in the F5 gene (Valencia-1 and Valencia-2) associated with mild factor V deficiency 31267299
Mumford AD 2003 Factor V I359T: a novel mutation associated with thrombosis and resistance to activated protein C 14617013
Murray JM 1995 Factor V New Brunswick: Ala221-to-Val substitution results in reduced cofactor activity 7655011
Nogami K 2014 Novel FV mutation (W1920R, FVNara) associated with serious deep vein thrombosis and more potent APC resistance relative to FVLeiden 24523236
Nuzzo F 2015A Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency 25470420
Nuzzo F 2015B Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay 25438872
Nuzzo F 2017 High incidence of intracranial bleeding in factor V-deficient patients with homozygous F5 splicing mutations 27351627
Paraboschi EM 2012 Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency 21777354
Paraboschi EM 2019 Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency 30791524
Paraboschi EM 2020 Profiling the mutational landscape of coagulation factor V deficiency 31399523
Park CH 2016 Genetic Confirmation of Congenital Factor V Deficiency in Korean Patients 26709270
Park CH 2019 Congenital factor V deficiency from compound heterozygous mutations with a novel variant c.2426del (p.Pro809Hisfs*2) in the F5 gene: A case report 32000417
Pruller F 2013 A novel factor V mutation causes a normal activated protein C ratio despite the presence of a heterozygous F5 R506Q (factor V Leiden) mutation 23957718
Scanavini D 2004 Modulation of factor V levels in plasma by polymorphisms in the C2 domain 14656739
Schrijver I 2002A Novel factor V C2-domain mutation (R2074H) in two families with factor V deficiency and bleeding 11858490
Schrijver I 2002B Homozygous factor V splice site mutation associated with severe factor V deficiency 11929802
Schrijver I 2005 High frequency of premature termination mutations in the factor V gene: three factor V deficiency case reports and a mutation review 15735818
Shinozawa K 2007 Molecular characterization of 3 factor V mutations, R2174L, V1813M, and a 5-bp deletion, that cause factor V deficiency 18192108
Simioni P 2005 An underestimated combination of opposites resulting in enhanced thrombotic tendency 15961511
Smith NL 2007 Association of genetic variations with nonfatal venous thrombosis in postmenopausal women 17284699
Song J 2009 A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family 19786944
Spiezia L 2012 Platelet factor V levels in moderate to severe congenital factor V deficiency 22176589
Steen M 2003 Factor V New Brunswick: Ala221Val associated with FV deficiency reproduced in vitro and functionally characterized 12714495
Suzuki S 2018 Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2, in a Japanese family 29082580
Talbot K 2010 A novel compensating mechanism for homozygous coagulation factor V deficiency suggested by enhanced activated partial thromboplastin time after reconstitution with normal factor V 20735394
Traynis I 2006 First molecular characterization of a patient with combined factor V and factor VII deficiency 16732384
van der Neut Kolfschoten M 2003 The R2-haplotype associated Asp2194Gly mutation in the light chain of human factor V results in lower expression levels of FV, but has no influence on the glycosylation of Asn2181 12624624
van der Neut Kolfschoten M 2004 Characterization of an immunologic polymorphism (D79H) in the heavy chain of factor V 15140126
van Wijk R 2001A Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency 11435304
van Wijk R 2001B Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency 11564077
Vellinga S 2006 Successful pregnancy in a patient with factor V deficiency: case report and review of the literature 16676084
Vincent LM 2013 Coagulation factor V(A2440G) causes east Texas bleeding disorder via TFPI? 23979162
Wang X 2018 Congenital factor V deficiency and decreased VWF in a Chinese male patient with hematuria 29105952
Wang Y 2014 Factor V deficiency caused by a novel nonsense mutation (Gln2031stop) in a Chinese patient 24675695
Williamson D 1998 Factor V Cambridge: a new mutation (Arg306-->Thr) associated with resistance to activated protein C 9454742
Xie F 2001 [Studies on hereditary deficiency of coagulation factor V] 11758222
Yamakage N 2006 A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene 16476093
Yamazaki T 2002 Molecular basis of quantitative factor V deficiency associated with factor V R2 haplotype 12239164
Yamazaki T 2010 The D2194G mutation is responsible for increased levels of FV1 in carriers of the factor V R2 haplotype 20694279
Zehnder JL 1996 Recurrent thrombosis due to compound heterozygosity for factor V Leiden and factor V deficiency 8735145
Zehnder JL 1999A Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford 10494770
Zehnder JL 1999B Erratum: Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford 10681265
Zheng WD 2006 [Identification of two novel mutations of human blood coagulation factor V gene in a Chinese family with congenital factor V deficiency] 17029198
Zheng WD 2010 Molecular characterisation of Tyr530Ser and IVS16-1G>T mutations causing severe factor V deficiency 20664902
Zhou RF 2005 [Severe hereditary coagulation factor V deficiency caused by two novel heterozygous mutations] 15946520