Article
Four novel FXI gene mutations in three factor XI- deficient patients.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Apr 2008
de Raucourt Emmanuelle, de Mazancourt Philippe, Quélin Florence
Abstract excerpt
Hereditary factor XI deficiency is a mild bleeding disorder, which is highly prevalent among Ashkenazi Jews, but has been reported in all populations. In Ashkenazi Jews, two factor XI gene mutations Glu 117X (type II) and Phe283Leu (type III) are particularly common. In other ethnic groups, factor XI deficiency is a rare bleeding disorder and is related to a variety of mutations throughout the factor XI gene....
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