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Thromb Haemost 2013; 109(04): 757-758
DOI: 10.1160/TH12-11-0832
DOI: 10.1160/TH12-11-0832
Letters to the Editor
Thrombosis in association with a novel substitution (γ346Gly→Val) at an absolutely conserved site in the fibrinogen γ chain
Further Information
Publication History
Received:
19 November 2012
Accepted after minor revision:
25 January 2012
Publication Date:
22 November 2017 (online)
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References
- 1 Tennent GA, Brennan SO, Stangou AJ. et al. Human plasma fibrinogen is synthesized in the liver. Blood 2007; 109: 1971-1974.
- 2 Huang S, Cao Z, Chung DW. et al. The role of βγ-and αγ complexes in the assembly of human fibrinogen. J Biol Chem 1996; 271: 27942-27947.
- 3 Hanss M, Biot F. A database for human fibrinogen variants. Ann NY Acad Sci. 2001 936. 89-90. Available at: http://www.geht.org/databaseang/fibrinogen/
- 4 Haverkate F, Samama M. Familial dysfibrinoge-naemia and thrombophilia. Report on a study of the SSC subcommittee on fibrinogen. Thromb Haemost 1995; 73: 151-161.
- 5 Brennan SO, Davis RL, Conard K. et al. Novel fibrinogen mutation γ314ThrPro (fibrinogen AI du-Pont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia. Liver Int 2010; 30: 1541-1547.
- 6 Lefebvre P, Velasco PT, Dear A. et al. Coagulopathy in compound heterozygotes with the fibrinogen Aαivs-4 mutation and AαGln328 truncation (fibrinogen Keokuk). Blood 2004; 103: 2571-2576.
- 7 Sheen CR, Low J, Joseph J. et al. Fibrinogen Darlinghurst: hypofibrinogenaemia caused by a W253G mutation in the gamma chain in a patient with both bleeding and thrombotic complications. Thromb Haemost 2006; 96: 685-687.
- 8 Schmidt D, Brennan SO. Modified form of the Fibrinogen Bβ Chain (des-Gln Bβ); a potential long term marker of pancreatitis. Clin Chem 2007; 53: 2105-2111.
- 9 Meyer M, Franke K, Richter W. et al. New molecular defects in the gamma subdomain of fibrinogen D-domain in four cases of (hypo)dysfibrinogenemia: fibrinogen variants Hannover VI, Homburg VII, Stuttgart and Suhl. Thromb Haemost 2003; 89: 637-646.
- 10 de Raucourt E, de Mazancourt P, Maghzal GJ. et al. Fibrinogen Saint-Germain II: hypofibrinogenemia due to heterozygous gamma N345S mutation. Thromb Haemost 2005; 94: 965-968.
- 11 Dib N, Quelin F, Ternisien C. et al. Fibrinogen Angers with a new deletion (γGVYYQ 346-350) causes hypofibrinogenemia with hepatic storage. J Thromb Haemost 2007; 05: 1999-2005.
- 12 Davis LR, May S, Chunilal S, Brennan SO. Two novel mutations at contiguous codons in the Bβ chain causing hypofibrinogenaemia. Thromb Haemost 2009; 1015: 980-982.