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Thromb Haemost 2010; 103(03): 677-679
DOI: 10.1160/TH09-06-0390
DOI: 10.1160/TH09-06-0390
Letters to the Editor
Characterisation of a novel nonsense mutation in FGG (Fibrinogen Poznan) causing hypofibrinogenaemia with a mild bleeding tendency
Weitere Informationen
Publikationsverlauf
Received:
22. Juni 2009
Accepted after minor revision:
22. Februar 2009
Publikationsdatum:
22. November 2017 (online)
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1 Contributed equally to this study.
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References
- 1 Neerman-Arbez M, de Moerloose P. Mutations in the Fibrinogen gene Cluster Accounting for Congenital Afibrinogenemia: an Update and Report of Ten Novel Mutations. Hum Mut 2007; 28: 540-553.
- 2 Magzhal GJ, Brennan SO, Homer VM. et al. The molecular mechanisms of congenital hypofibrinogenaemia. Cell Mol Life Sci 2004; 61: 1427-1438.
- 3 Vu D, Neerman-Arbez M. Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins. J Thromb Haemost 2007; 5 (Suppl. 01) 125-131.
- 4 Neerman-Arbez M, de Moerloose P, Honsberger A. et al. Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes. Hum Genet 2001; 108: 237-240.
- 5 Davis RL, Brennan SO. Fibrinogen Tologa Bay: a novel γAla341Val mutation causing hypofibrinogenaemia. Thromb Haemost 2007; 98: 1136-1138.
- 6 Okumura N, Terasawa F, Tanaka H. et al. Analysis of fibrinogen gamma-chain truncations shows the C-terminus, particularly gammaIle387, is essential for assembly and secretion of this multichain protein. Blood 2002; 99: 3654-3660.
- 7 Iida H, Ishii E, Nakahara M. et al. A case of congenital afibrinogenemia: fibrinogen Hakata, a novel nonsense mutation of the fibrinogen gamma-chain gene. Thromb Haemost 2001; 84: 49-53.
- 8 Neerman-Arbez M, Germanos-Haddad M, Tzanidakis K. et al. Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells. Blood 2004; 104: 3618-3623.
- 9 Vu D, de Moerloose P, Batorova A. et al. Hypofibrinogenemia due to a novel FGG missense mutation (W253C) in the gamma-chain globular domain impairing fibrinogen secretion. J Med Genet 2005; 42-e57
- 10 Serre D, Gurd S, Ge B. et al. Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression. PLoS Genet. 2008; 4: e1000006.