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Article

Congenital disorder of glycosylation Ic in patients of Indian origin.

Molecular genetics and metabolism - 1 Jul 2003

Newell J W, Seo N-S, Enns G M, McCraken M, Mantovani J F, Freeze H H

Abstract excerpt

Congenital disorder of glycosylation type Ic (CDG-Ic) is caused by mutations in ALG6, encoding an alpha 1,3-glucosyltransferase. The most frequent mutation found in this gene (C998T resulting in an A333V substitution) has until now been found only in patients of European origin. Here we describe the first occurrence of this CDG-Ic mutation in patients of Indian origin. Of three Indian patients described in this...

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Source

Identifiers

PMID: 12855228
DOI: 10.1016/s1096-7192(03)00089-1

Genes

ALG6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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