Yayıncı "Massachusetts Medical Soc" Biyoloji Bölümü için listeleme

Toplam kayıt 1, listelenen: 1-1

    • Brief Report A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy 

      Hara, Yuji; Balci-Hayta, Burcu; Yoshida-Moriguchi, Takako; Kanagawa, Motoi; de Bernabe, Daniel Beltran-Valero; Gundesli, Hulya; Willer, Tobias; Satz, Jakob S.; Crawford, Robert W.; Burden, Steven J.; Kunz, Stefan; Oldstone, Michael B. A.; Accardi, Alessio; Talim, Beril; Muntoni, Francesco; Topaloglu, Haluk; Dincer, Pervin; Campbell, Kevin P. (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 ...