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  • Human F5 wild-type allele is located in the vicinity of 1q23 and is approximately 75 kb in length. This allele, which encodes coagulation factor V protein, is involved in the mediation of coagulation. Mutation of the gene is associated with hemorrhagic diathesis in factor V deficiency, Budd-Chiari syndrome, thrombophilia due to activated protein C resistance and susceptibility to ischemic stroke.
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