
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina,Volume:
93
Langue:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2013.05.009
Date:
July, 2013
Fichier:
PDF, 1.70 MB
english, 2013