Article
Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools.
Human mutation - 1 Sept 2005
Saunders Rebecca E, O'Connell Niamh M, Lee Christine A, Perry David J, Perkins Stephen J
Abstract excerpt
Factor XI (FXI) is the zymogen of a serine protease enzyme in the intrinsic pathway of blood coagulation and is an important factor in the creation of a stable fibrin clot. Deficiency of FXI leads to an injury-related bleeding disorder and is remarkable for the lack of correlation between bleeding symptoms and FXI coagulant activity (FXI:C). The FXI protein is composed of five domains: four tandem repeat domains...
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