Coagulation factor VA2440G causes east Texas bleeding disorder via TFPIα
نویسندگان
چکیده
منابع مشابه
Coagulation factor V(A2440G) causes east Texas bleeding disorder via TFPIα.
The autosomal dominantly inherited east Texas bleeding disorder is linked to an A2440G variant in exon 13 of the F5 gene. Affected individuals have normal levels of coagulation factor V (FV) activity, but demonstrate inhibition of global coagulation tests. We demonstrated that the A2440G mutation causes upregulation of an alternatively spliced F5 transcript that results in an in-frame deletion ...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2013
ISSN: 0021-9738
DOI: 10.1172/jci69091