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

Thrombosis and Haemostasis

Volumn 100, Issue 4, 2008, Pages 708-710

  Davis, Ryan L ^a   Baker, Bartrum ^b   Brennan, Stephen O ^a,c  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b PALMERSTON NORTH HOSPITAL   (New Zealand)

^c CANTERBURY HEALTH LABORATORIES   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

C REACTIVE PROTEIN; FIBRINOGEN; FIBRINOPEPTIDE B;

ADULT; AMINO ACID SEQUENCE; ARTICLE; BLOOD CLOTTING; CASE REPORT; DISEASE SEVERITY; DNA SEQUENCE; ELECTROSPRAY MASS SPECTROMETRY; FEMALE; FIBRINOGEN BLOOD LEVEL; GRAVIMETRY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOSPITALIZATION; HUMAN; MENORRHAGIA; MUTATION; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; SPONTANEOUS ABORTION; THROMBIN TIME; VAGINA BLEEDING;

ADULT; BLOOD COAGULATION DISORDERS; CONTUSIONS; CRYSTALLOGRAPHY; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; FIBRINOGEN; HETEROZYGOTE; HUMANS; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, PROTEIN; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION;

EID: 54949138781     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH08-05-0304     Document Type: Article

References (8)

1. Tennent GA, Brennan SO, Stangou AJ, et al. Human plasma fibrinogen is synthesized in the liver. Blood 2007; 109: 1971-1974.
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.