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Thromb Haemost 2005; 93(03): 612-613
DOI: 10.1055/s-0037-1616565
DOI: 10.1055/s-0037-1616565
Case Report
Familial hypodysfibrinogenaemia associated with second occurrence of γ326 Cys→Tyr mutation
Further Information
Publication History
Received
18 November 2004
Accepted after revision
30 December 2004
Publication Date:
14 December 2017 (online)
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References
- 1 Everse SJ, Spraggon G, Doolittle RF. A three-dimensional consideration of variant human fibrinogens. Thromb Haemost 1998; 80: 1-9.
- 2 Maghzal GJ, Brennan SO, Homer VM. et al. The molecular mechanisms of congenital hypofibrinogenaemia. Cell Mol Life Sci 2004; 61: 1427-38.
- 3 Meyer M, Franke K, Richter W. et al. New molecular defects in the γ subdomainof fibrinogen D-domain in four cases of (hypo)dysfibrinogenemia: fibrinogen variants Hannover VI, Homburg VII, Stuttgart and Suhl. Thromb Haemost 2003; 89: 637-46.
- 4 Guglielmone HA, Sanchez MC, Abate Daga D. et al. A new heterozygous mutation in gamma fibrinogen gene leading to 326 Cys→ Ser substitution in fibrinogen Córdoba is associated with defective polymerization and familial hypodysfibrinogenemia. J Thromb Haemost 2004; 2: 352-4.
- 5 Maghzal GJ, Brennan SO, George PM. Fibrinogen B β polymorphisms do not directly contribute to an altered in vitro clot structure in humans. Thromb Haemost 2003; 90: 1021-8.
- 6 Brennan SO. Electrospray ionisation analysis of human fibrinogen. Thromb Haemost 1997; 78: 1055-8.