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Thromb Haemost 2007; 98(03): 683-685
DOI: 10.1160/TH07-01-0041
DOI: 10.1160/TH07-01-0041
Letters to the Editor
FactorV C1149G and 5609–10INSCGTGGTT causing factor V deficiency: Molecular characterization by in-vitro expression
Authors
Weitere Informationen
Publikationsverlauf
Received
21. Januar 2007
Accepted after resubmission
25. Mai 2007
Publikationsdatum:
28. November 2017 (online)
* These authors contributed equally to this work.
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References
- 1 Schrijver I, Houissa-Kastally R, Jones CD. et al. Novel Factor V C2-Domain Mutation (R2074H) in Two Families with Factor V Deficiency and Bleeding. Thromb Haemost 2002; 87: 294-299.
- 2 Gandrille S, Aiach M. Identification of mutations in 90 of 121 consecutive symptomatic French patients with a type I protein C deficiency. The French INSERM network on molecular abnormalities responsible for protein C and protein S deficiencies. Blood 1995; 86: 2598-2605.
- 3 Schrijver I, Hong DW, Mandle L. et al. High frequency of premature termination mutations in the factor V gene: three factor V deficiency case reports and a mutation review. Thromb Haemost 2005; 93: 610-611.
- 4 Cai X-H, Wang X-F, Dai J. et al. Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII. J Thromb Haemost 2006; 4: 1969-1974.
- 5 Zhou RF, Fu QH, Wang WB. et al. Molecular mechanisms of antithrombin deficiency in two Chinese families. One novel and one recurrent point mutation in the antithrombin gene causing venous thrombosis. Thromb Haemost 2005; 94: 1172-1176.
- 6 Chen TY, Lin TM, Chen HY. et al. Gly392Cys missense mutation in the A2 domain of factor V causing severe factor V deficiency: molecular characterization by expression of the recombinant protein. Thromb Haemost 2005; 93: 614-615.
- 7 Enjolras N, Plantier JL, Rodriguez M-H. et al. Two novel mutations in EGF-like domains of human factor IX dramatically impair intracellular processing and secretion. J Thromb Haemost 2004; 2: 1143-1154.
- 8 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: 173-177.
- 9 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: 3210-3216.
- 10 Yamakage N, Ikejiri M, Okumura K. et al. A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene. Haemophilia 2006; 12: 172-178.
- 11 Steen M, Miteva M, Villoutreix BO. et al. Factor V New Brunswick: Ala221Val associated with FV deficiency reproduced in vitro and functionally characterized. Blood 2003; 102: 1316-1322.
- 12 Fitches AC, Lewandowski K, Olds RJ. Creation of an additional glycosylation site as a mechanism for type I antithrombin deficiency. Thromb Haemost 2001; 86: 1023-1027.
- 13 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 in vitro expression. Blood 2003; 102: 306a Abstract 1099.
- 14 Busca R, Martinez M, Vilella E. et al. The mutation Gly142Glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes. J Biol Chem 1996; 271: 2139-2146.
- 15 Busca R, Pujana MA, Pognonec P. et al. Absence of N-glycosylation at asparagine 43 in human lipoprotein lipase induces its accumulation in the rough endoplasmic reticulum and alters this cellular compartment. J Lipid Res 1995; 36: 939-951.