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Dobyns, William
One or more keywords matched the following items that are connected to
Dobyns, William
Item Type
Name
Concept
Glycosylation
Concept
Congenital Disorders of Glycosylation
Academic Article
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan.
Academic Article
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Academic Article
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Academic Article
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.
Academic Article
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
Academic Article
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Academic Article
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Search Criteria
Glycosylation