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Article

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

Human mutation - 1 Nov 2000

Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B

Abstract excerpt

The PMM2 gene, which is defective in CDG-Ia, was cloned three years ago [Matthijs et al., 1997b]. Several publications list PMM2 mutations [Matthijs et al., 1997b, 1998; Kjaergaard et al., 1998, 1999; Bjursell et al., 1998, 2000; Imtiaz et al., 2000] and a few mutations have appeared in case repo...

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Source

Identifiers

PMID: 11058895
DOI: 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y

Genes

PMM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11058895-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).PMID 11058895Read ↗

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