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Thromb Haemost 2006; 96(02): 231-232
DOI: 10.1160/TH06-04-0196
DOI: 10.1160/TH06-04-0196
Case Report
Fibrinogen Montreal: A novel missense mutation (Aα D496N) associated with hypofibrinogenaemia
Authors
Financial support: C. Sheen is the recipient of a Bright Futures Enterprise Scholarship from the New Zealand Tertiary Education Commission. N. Jabado is the recipient of a Chercheur Boursier award from Fonds de la Recherche en Sante au Quebec.
Further Information
Publication History
Received
09 April 2006
Accepted after resubmission
15 June 2006
Publication Date:
28 November 2017 (online)
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References
- 1 Tsurupa G, Tsonev L, Medved L. Structural organization of thefibrin(ogen) alpha C-domain. Biochemistry 2002; 41: 6449-59.
- 2 Clauss A. Rapid physiological coagulation method in determination of fibrinogen. Acta Haematol 1957; 17: 237-46.
- 3 Brennan SO, Hammonds B, George PM. Aberrant hepatic processing causes removal of activation peptide and primary polymerisation site from fibrinogen Canterbury (A alpha 20 Val --> Asp). J Clin Invest 1995; 96: 2854-8.
- 4
Grieninger G,
Lu X,
Cao Y.
et al. Fib420, the novel fibrinogen subclass: newborn levels are higher than adult.
Blood 1997; 90: 2609-14.
Reference Ris Wihthout Link
- 5 Hanss M, Biot F. A database for human fibrinogen variants. Ann N Y Acad Sci 2001; 936: 89-90.
- 6 Huang S, Mulvihill ER, Farrell DH. et al. Biosynthesis of human fibrinogen. Subunit interactions and potential intermediates in the assembly. J Biol Chem 1993; 268: 8919-26.
- 7 Maghzal GJ, Brennan SO, Homer VM. et al. The molecular mechanisms of congenital hypofibrinogenaemia. Cell Mol Life Sci 2004; 61: 1427-38.
- 8 Vu D, de Moerloose P, Batorova A. et al. Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion. J Med Genet 2005; 42: e57.
- 9 Brennan SO, Maghzal G, Shneider BL. et al. Novel fibrinogen gamma375 Arg-->Trp mutation (fibrinogen aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia. Hepatology 2002; 36: 652-8.
- 10 Brennan SO, Wyatt J, Medicina D. et al. Fibrinogen brescia: hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a gamma284 Gly-->Arg mutation. Am J Pathol 2000; 157: 189-96.
- 11 Faustino NA, Cooper TA. Pre-mRNA splicing and human disease. Genes Dev 2003; 17: 419-37.
- 12 Pagani F, Baralle FE. Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet 2004; 05: 389-96.
- 13 Dear A, Daly J, Brennan SO. et al. An intronic mutation within FGB (IVS1+2076 a-->g) is associated with afibrinogenemia and recurrent transient ischemic attacks. J Thromb Haemost 2006; 04: 471-2.