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Article

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.

Human genetics - 1 May 2000

Imbach T, Grünewald S, Schenk B, Burda P, Schollen E, Wevers R A, Jaeken J, de Klerk J B, Berger E G, Matthijs G, Aebi M, Hennet T

Abstract excerpt

Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndrome, represent a family of genetic diseases with variable clinical presentations. Common to all types of CDG characterized to date is a defective Asn-linked glycosylation caused by enzymatic defects of N-glycan synthesis. Previously, we have identified a mutation in the ALG6 alpha1,3 glucosyltransferase gene as...

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Source

Identifiers

PMID: 10914684
DOI: 10.1007/s004390000293

Genes

ALG6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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