Article
An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B.
Journal of thrombosis and haemostasis : JTH - 1 Jul 2013
Rallapalli P M, Kemball-Cook G, Tuddenham E G, Gomez K, Perkins S J
Abstract excerpt
BACKGROUND: Factor IX (FIX) is important in the coagulation cascade, being activated to FIXa on cleavage. Defects in the human F9 gene frequently lead to hemophilia B. OBJECTIVE: To assess 1113 unique F9 mutations corresponding to 3721 patient entries in a new and up-to-date interactive web database alongside the FIXa protein structure. METHODS: The mutations database was built using MySQL and structural analyses...
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