Fibrinogen Darlinghurst: Hypofibrinogenaemia caused by a W253G mutation in the gamma chain in a patient with both bleeding and thrombotic complications

Thrombosis and Haemostasis

Volumn 96, Issue 5, 2006, Pages 685-687

  Sheen, Campbell R ^a   Low, Joyce ^b   Joseph, Joanne ^b   Kotlyar, Eugene ^b   George, Peter M ^a   Brennan, Stephen O ^a  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b ST VINCENT S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRINOGEN; FIBRINOGEN VARIANT; GLYCINE; TRYPTOPHAN;

ARTICLE; BLEEDING; CASE REPORT; CLINICAL FEATURE; DNA SEQUENCE; ELECTROSPRAY MASS SPECTROMETRY; FAMILY STUDY; FEMALE; FIBRINOGEN BLOOD LEVEL; GENE EXPRESSION; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC RISK; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HUMAN; HYPOFIBRINOGENEMIA; LABORATORY TEST; MALE; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN ISOLATION; THROMBOEMBOLISM;

AFIBRINOGENEMIA; FAMILY HEALTH; FEMALE; FIBRINOGENS, ABNORMAL; HEMORRHAGE; HUMANS; MUTATION; THROMBOSIS;

EID: 33751239754     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH06-08-0425     Document Type: Article

References (10)

1. Chen R, Doolittle RF. γ-γ cross-linking sites in human and bovine fibrin. Biochemistry 1971; 10: 4487-91.
2. Spraggon G, Everse SJ, Doolittle RF. Crystal structures of fragment D from human fibrinogen and its crosslinked counterpart from fibrin. Nature 1997; 389: 455-62.
3. Kloczewiak M, Timmons S, Lukas TJ, et al. Platelet receptor recognition site on human fibrinogen. Synthesis and structure-function relationship of peptides corresponding to the carboxy-terminal segment of the gamma chain. Biochemistry 1984; 23: 1767-74.
4. Clauss A. Rapid physiological coagulation method in determination of fibrinogen. Acta Haematol 1957; 17: 237-46.
5. Brennan SO, Hammonds B, George PM. Aberrant hepatic processing causes removal of activation peptide and primary polymerisation site from fibrinogen Canterbury (Aα 20 Val --> Asp). J Clin Invest 1995; 96: 2854-8.
6. Brennan SO. Electrospray ionisation analysis of human fibrinogen. Thromb Haemost 1997; 78: 1055-8.
7. Hanss M, Biot F. A database for human fibrinogen variants. Ann NY Acad Sci 2001; 936: 89-90.
8. Homer VM, Mullin JL, Brennan SO, et al. Novel Aα chain truncation (fibrinogen Perth) resulting in low expression and impaired fibrinogen polymerization. J Thromb Haemost 2003; 1: 1245-50.
9. Yee VC, Pratt KP Cote HC, et al. Crystal structure of a 30 kDa C-terminal fragment from the gamma chain of human fibrinogen. Structure 1997; 5: 125-38.
10. 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: 450-3.