Title : Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

Pub. Date : 2004 Jul

PMID : 15148656






1 Functional Relationships(s)
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1 The ALG9 defect found in the patient with CDG--who presented with developmental delay, hypotonia, seizures, and hepatomegaly--shows that efficient lipid-linked oligosaccharide synthesis is required for proper human development and physiology. lipid-linked oligosaccharides ALG9 alpha-1,2-mannosyltransferase Homo sapiens