Browsing Biyoloji Bölümü Makale Koleksiyonu by Publisher "Massachusetts Medical Soc"
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Brief Report A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy
(Massachusetts Medical Soc, 2011)Dystroglycan, which serves as a major extracellular matrix receptor in muscle and the central nervous system, requires extensive O-glycosylation to function. We identified a dystroglycan missense mutation (Thr192. Met) in ...