High heterozygosity frequency of three exonic SNPs of factor V gene (F5): implications for genetic diagnosis
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چکیده
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بررسی تنوع ژنتیکی مارکر rs438601در جمعیت اصفهان: یک مارکر آگاهیدهنده در تشخیصهای مولکولی هموفیلی B
Introduction: Hemophilia B is an X-linked recessive genetic disease caused by mutations in the coagulation Factor IX gene. Mutations in the Factor IX gene result in dysfunction or deficiency of coagulation factor of IX. Direct mutation analysis involves the ideal method for molecular diagnosis of the disease. However, due to the high number of identified mutations in the gen, the lack of a comm...
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