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Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
Discovery and characterization of variance QTLs in human induced pluripotent stem cells.
Effects of neonatal hemispherectomy on location and number of corticospinal neurons in the rat.
Inhibition of interferon-beta responses in multiple sclerosis immune cells associated with high-dose statins.
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