Subscribe to RSS
Please copy the URL and add it into your RSS Feed Reader.
https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00035024.xml
Download PDF
Thromb Haemost 2005; 93(03): 614-615
DOI: 10.1055/s-0037-1616564
DOI: 10.1055/s-0037-1616564
Letters to the Editor
Gly392Cys missense mutation in the A2 domain of factor V causing severe factor V deficiency: molecular characterization by expression of the recombinant protein
Authors
Further Information
Publication History
Publication Date:
14 December 2017 (online)
-
References
- 1 Mann KG, Kalafatis M. Factor V: a combination of Dr Jekyll and Mr Hyde. Blood 2003; 101: 20-30.
- 2 Duga S, Asselta R, Tenchini ML. Coagulation factor V. Int J Biochem Cell Biol 2004; 36: 1393-9.
- 3 Kane WH, Davie EW. Blood coagulation factors V and VIII: structural and functional similarities and their relationship to hemorrhagic and thrombotic disorders. Blood 1988; 71: 539-55.
- 4 Ortel TL, Takahashi N, Putnam FW. Structural model of human ceruloplasmin based on internal triplication, hydrophilic/hydrophobic character, and secondary structure of domains. Proc Natl Acad Sci U S A 1984; 81: 4761-5.
- 5 Peyvandi F, Duga S, Akhavan S. et al. Rare coagulation deficiencies. Haemophilia 2002; 8: 308-21.
- 6 Cripe LD, Moore KD, Kane WH. Structure of the gene for human coagulation factor V. Biochemistry 1992; 31: 3777-85.
- 7 Montefusco MC, Duga S, Asselta R. et al. 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. Blood 2003; 102: 3210-6.
- 8 Fu Q, Wu W, Ding Q. et al. Type I coagulation factor V deficiency caused by compound heterozygous mutation of F5 gene. Haemophilia 2003; 9: 646-9.
- 9 Fu QH, Zhou RF, Liu LG. et al. Identification of three F5 gene mutations associated with inherited coagulation factor V deficiency in two Chinese pedigrees. Haemophilia 2004; 10: 264-70.
- 10 Duga S, Montefusco MC, Asselta R. et al. R2074C missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein. Blood 2003; 101: 173-7.
- 11 Duga S, Asselta R, Malcovati M. et al. From Owren’s first parahemophilia case to present, characterization of missense mutations in the factor V gene by i n vitro expression. Blood 2003; 102: 306a Abstract 1099
- 12 Castoldi E, Lunghi B, Mingozzi F. et al. A missense mutation (Y1702C) in the coagulation factor V gene is a frequent cause of factor V deficiency in the Italian population. Haematologica 2001; 86: 629-33.
- 13 Castoldi E, Simioni P, Kalafatis M. et al. Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thombophilic family. Blood 2000; 96: 1443-8.
- 14 Xue J, Kalafatis M, Silveira JR. et al. Determination of the disulfide bridges in factor Va heavy chain. Biochemistry 1994; 33: 13109-16.
- 15 Bossone A, D’Angelo F, Santacroce R. et al. Factor V Arg2074Cys: a novel missense mutation in the C2 domain of factor V. Thromb Haemost 2002; 87: 923-4.