vitamin K-dependent clotting factors, combined deficiency of, 2
vitamin K-dependent clotting factors, combined deficiency of, 2
An autosomal recessive coagulopathy (OMIM:607473) caused by a deficiency of all vitamin K-dependent clotting factors, which usually responds to administration of vitamin K.Molecular pathology
Caused by defects of VKORC1, which encodes the catalytic subunit of the vitamin K epoxide reductase (VKOR) complex that reduces inactive vitamin K 2,3-epoxide to active vitamin K.