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Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan.
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Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan.
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan. Am J Hum Genet. 2013 Mar 07; 92(3):354-65.
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PubMed
subject areas
Animals
Brain
Cell Line
Dystroglycans
Endoplasmic Reticulum
Female
Fibroblasts
Genetic Predisposition to Disease
Glycosylation
Humans
Infant
Male
Muscle, Skeletal
Muscular Dystrophies
Mutation
N-Acetylgalactosaminyltransferases
Zebrafish
authors with profiles
William B. Dobyns