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Article

Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Westphal V, Peterson S, Patterson M, Tournay A, Blumenthal A, Treacy E P, Freeze H H

Abstract excerpt

PURPOSE: Congenital disorders of glycosylation (CDG) result from mutations in N-glycan biosynthesis. Mutations in phosphomannomutase (PMM2) cause CDG-Ia. Here, we report four clinically mild patients and their mutations in PMM2. METHODS: Analysis of the PMM2 cDNA and gene revealed the mutations affecting the glycosylation efficiency. RESULTS: The patients have 30% to 50% normal PMM activity in fibroblasts due to...

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Identifiers

PMID: 11715002
DOI: 10.1097/00125817-200111000-00003

Genes

PMM2

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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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Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.PMID 11715002Read ↗

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