Molecular basis of hereditary factor V deficiency in India: Identification of four novel mutations and their genotype-phenotype correlation

• References

• 1 Koeleman BP. et al. Location on the human genetic linkage map of 26 genes involved in blood coagulation. Thromb Haemost 1997; 77: 873-878.
• 2 Jenny RJ. et al. Complete cDNA and derived amino acid sequence of human factor V. Proc Natl Acad Sci USA 1987; 84: 4846-4850.
• 3 Zheng W. et al. Molecular characterisation of Tyr530Ser and IVS16–1G>T mutations causing severe factor V deficiency. Thromb Haemost 2010; 104: 536-543.
• 4 Vos HL. An online database of mutations and polymorphisms in and around the coagulation factor V gene. J Thromb Haemost 2007; 5: 185-188.
• 5 Acharya SS. et al. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost 2004; 2: 248-256.
• 6 Quick AJ. The assay and properties of labile factor (factor V). J Clin Pathol 1960; 13: 457-462.
• 7 Delev D. et al. Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency. Haemophilia 2009; 15: 1143-1153.
• 8 Williams IJ. et al. Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis. Thromb Haemost 1998; 79: 723-726.
• 9 Jayandharan G. et al. 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. Haemophilia 2005; 11: 481-491.
• 10 Orban T. et al. Completed three-dimensional model of human coagulation factor va. Molecular dynamics simulations and structural analyses. Biochemistry 2005; 44: 13082-13090.
• 11 Ng PC, Henikoff S. Accounting for human polymorphisms predicted to affect protein function. Genome Res 2002; 12: 436-446.
• 12 Ramensky V. et al. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002; 30: 3894-3900.
• 13 Sunyaev S. et al. Towards a structural basis of human non-synonymous single nucleotide polymorphisms. Trends Genet 2000; 16: 198-200.
• 14 Sunyaev S. et al. Prediction of deleterious human alleles. Hum Mol Genet 2001; 10: 591-597.
• 15 Majumder R. et al. The phosphatidylserine binding site of the factor Va C2 domain accounts for membrane binding but does not contribute to the assembly or activity of a human factor Xa-factor Va complex. Biochemistry 2005; 44: 711-718.
• 16 Delev D. et al. Modelling and expression studies of two novel mutations causing factor V deficiency. Thromb Haemost 2008; 100: 766-772.