Thromb Haemost 2005; 93(03): 612-613
DOI: 10.1055/s-0037-1616565
Case Report
Schattauer GmbH

Familial hypodysfibrinogenaemia associated with second occurrence of γ326 Cys→Tyr mutation

Amy Dear
1   Molecular Pathology Laboratory, Christchurch School of Medicine and Health Sciences, University of Otago, Christchurch, New Zealand
,
Stephen O. Brennan
1   Molecular Pathology Laboratory, Christchurch School of Medicine and Health Sciences, University of Otago, Christchurch, New Zealand
,
Peter M. George
1   Molecular Pathology Laboratory, Christchurch School of Medicine and Health Sciences, University of Otago, Christchurch, New Zealand
› Author Affiliations
Further Information

Publication History

Received 18 November 2004

Accepted after revision 30 December 2004

Publication Date:
14 December 2017 (online)

 

 
  • References

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  • 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.