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Thromb Haemost 2006; 96(05): 685-687
DOI: 10.1160/TH06-08-0425
DOI: 10.1160/TH06-08-0425
Case Report
Fibrinogen Darlinghurst: Hypofibrinogenaemia caused by a W253G mutation in the gamma chain in a patient with both bleeding and thrombotic complications
Financial support: C. Sheen is the recipient of a Bright Futures Enterprise Scholarship from the New Zealand Tertiary Education Commission.
Further Information
Publication History
Received
03 August 2006
Accepted after resubmission
06 September 2006
Publication Date:
01 December 2017 (online)
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References
- 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; 01: 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; 05: 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.