Fibrinogen Foxton: A novel BβA277V mutation causing low normal plasma fibrinogen concentration

Thromb Haemost 2008; 100(04): 708-710
DOI: 10.1160/TH08-05-0304

Case Report

Schattauer GmbH

Ryan L. Davis

¹Molecular Pathology Laboratory, Christchurch School of Medicine and Health Sciences, University of Otago, Christchurch, New Zealand

,

Bartrum Baker

²Palmerston North Hospital, Palmerston North, New Zealand

,

Stephen O. Brennan

¹Molecular Pathology Laboratory, Christchurch School of Medicine and Health Sciences, University of Otago, Christchurch, New Zealand

³Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch Hospital, Christchurch, New Zealand

References
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2 Mosesson MW, Siebenlist KR, Meh DA. The structure and biological features of fibrinogen and fibrin. Ann NY Acad Sci 2001; 936: 11-30.
3 Magzhal GJ, Brennan SO, George PM. Fibrinogen Bβ polymorphisms do not directly contribute to an altered in vitro clot structure in humans. Thromb Haemost 2003; 90: 1021-1028.
4 Brennan SO. Electrospray ionisation analysis of human fibrinogen. Thromb Haemost 1997; 78: 1055-1058.
5 Spraggon G, Everse SJ, Doolittle RF. Crystal structures of fragment D from human fibrinogen and its crosslinked counterpart from fibrin. Nature 1997; 389: 455-462.
6 Hill MB, Brennan SO, Dear A. et al. Fibrinogen Nottingham II: a novel Bbeta Arg264gly substitution causing hypofibrinogenaemia. Thromb Haemost 2006; 96: 378-380.
7 Maghzal GJ, Brennan SO, Fellowes AP. et al. Familial hypofibrinogenaemia associated with heterozygous substitution of a conserved arginine residue; Bbeta255 Arg-->His (Fibrinogen Merivale). Biochim Biophys Acta 2003; 1645: 146-151.
8 Brennan SO, Wyatt JM, May S. et al. Hypofibrinogenemia due to novel 316 Asp--> Tyr substitution in the fibrinogen Bbeta chain. Thromb Haemost 2001; 85: 450-453.