Identification and Functional Analysis of a Defect in the Human ALG9 Gene: Definition of Congenital Disorder of Glycosylation Type IL

Defects of lipid-linked oligosaccharide assembly lead to alterations of N-linked glycosylation known as “type I congenital disorders of glycosylation” (CDG). Dysfunctions along this stepwise assembly pathway are characterized by intracellular accumulation of intermediate lipid-linked oligosaccharide...

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Bibliographic Details
Main Authors: Frank, Christian G., Grubenmann, Claudia E., Eyaid, Wafaa, Berger, Eric G., Aebi, Markus, Hennet, Thierry
Format: Artigo
Language:Inglês
Published: The American Society of Human Genetics 2004
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1181998/
https://ncbi.nlm.nih.gov/pubmed/15148656
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