Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of Α-Dystroglycan.
Elizabeth Stevens,Keren J. Carss,Sebahattin Cirak,Reghan Foley,Silvia Torelli,Tobias Willer,Dimira E. Tambunan,Shu Yau,Lina Brodd,Caroline A. Sewry,Lucy Feng,Goknur Haliloglu,Diclehan Orhan,William B. Dobyns,Gregory M. Enns,Melanie Manning,Amanda Krause,Mustafa A. Salih,Christopher A. Walsh,Matthew Hurles,Kevin P. Campbell,M. Chiara Manzini,Derek Stemple,Yung-Yao Lin,Francesco Muntoni AMERICAN JOURNAL OF HUMAN GENETICS（2013）
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