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  • Human GP1BA wild-type allele is located in the vicinity of 17p13.2 and is approximately 3 kb in length. This allele, which encodes platelet glycoprotein Ib alpha chain protein, is involved in the regulation of blood coagulation. Mutation of the gene is associated with Bernard-Soulier syndrome type A1 and platelet-type von Willebrand disease and with increased susceptibility to nonarteritic anterior ischemic optic neuropathy.
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