## Abstract Antithrombin (AT), the most important coagulation serine proteases inhibitor, plays an important role in maintaining the hemostatic balance. Inherited AT deficiency, mainly characterized by predisposition to recurrent venous thromboembolism, is transmitted in an autosomal dominant manne
✦ LIBER ✦
Genetic, molecular and functional analyses of complement factor I deficiency
✍ Scribed by Sara C. Nilsson; Leendert A. Trouw; Nicolas Renault; Maria A. Miteva; Ferah Genel; Marta Zelazko; Hanne Marquart; Klaus Muller; Anders G. Sjöholm; Lennart Truedsson; Bruno O. Villoutreix; Anna M. Blom
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 422 KB
- Volume
- 39
- Category
- Article
- ISSN
- 0014-2980
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Polymorphic variants in the gene encoding factor VII (F7) affect the plasma levels of this coagulation protein and modify the clinical phenotype of FVII deficiency in some patients. In this study we report the in vitro functional analysis of a novel polymorphic variant located in the 3 0 untranslate