Exploring the global landscape of genetic variation in coagulation factor XI deficiency
نویسندگان
چکیده
منابع مشابه
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients.
BACKGROUND AND OBJECTIVES Factor XI (FXI) deficiency is a rare autosomal recessive coagulopathy which is, however, frequent among Ashkenazi Jews. Two mutations, type II (Glu117stop) and type III (Phe283Leu), account for the majority of abnormal alleles in this population. The aim of this study was to analyze the molecular basis of FXI deficiency in six unrelated Italian probands with severe def...
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Human factor XI (FXI) is a blood coagulation factor participating in the early phase of the intrinsic pathway of blood coagulation. It circulates in blood as a glycoprotein composed of two identical chains held together by a single disulfide bond between the fourth apple domains. FXI has been expressed in baby hamster kidney (BHK) cells, where it was synthesized as a single-chain molecule that ...
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ژورنال
عنوان ژورنال: Blood
سال: 2017
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2017-04-780148