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Thromb Haemost 2007; 98(03): 687-688
DOI: 10.1160/TH07-02-0126
DOI: 10.1160/TH07-02-0126
Letters to the Editor
Severe factor VII deficiency caused by a novel point mutation (Arg353Pro) combined with a rare Cys22Arg mutation
Further Information
Publication History
Received
18 February 2007
Accepted after resubmission
01 June 2007
Publication Date:
28 November 2017 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00035024/200703/lookinside/thumbnails/10-1160-th07-02-0126-1.jpg)
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References
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- 2 Hewitt J, Ballard JN, Nelson TN. et al. Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion. Br J Haematol 2005; 128: 380-385.
- 3 McVey JH, Boswell E, Mumford AD. et al. Factor VII deficiency and the FVII mutation database. Hum Mutat 2001; 17: 3-17.
- 4 Green F, Kelleher C, Wilkes H. et al. A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals. Arterioscler Thromb 1991; 11: 540-546.
- 5 Hunault M, Arbini AA, Lopaciuk S. et al. The Arg353Gln polymorphism reduces the level of coagulation factor VII in vivo and in vitro studies. Arteriosclerosis Thromb Vasc Biol 1997; 17: 2825-2829.
- 6 Fromovich-Amit Y, Zivelin A, Rosenberg N. et al. Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patients. J Thromb Haemost 2004; 2: 1774-1781.
- 7 Soriano-Garcia M, Padmanabhan K, de Vos AM. et al. The Ca2+ ion and membrane binding structure of the Gla domain of Ca-prothrombin fragment 1. Biochemistry 1992; 31: 2554-2566.