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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet. 2012 May; 44(5):575-80.
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PubMed
subject areas
Cells, Cultured
Dystroglycans
Fibroblasts
Genetic Complementation Test
Glycosylation
Humans
Infant
Laminin
Mannose
Mannosyltransferases
Mutation
Nucleotidyltransferases
Polysaccharides
Skin
Walker-Warburg Syndrome
authors with profiles
William B. Dobyns