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Article

Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry.

Molecular genetics and metabolism - 1 May 2001

Westphal V, Enns G M, McCracken M F, Freeze H H

Abstract excerpt

Congenital disorders of glycosylation (CDG) are caused by autosomal recessive mutations in genes affecting N-glycan biosynthesis. Mutations in the PMM2 gene, which encodes the enzyme phosphomannomutase (mannose 6-phosphate <--> mannose 1-phosphate), give rise to the most common form: CDG-Ia. Thes...

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Source

Identifiers

PMID: 11350185
DOI: 10.1006/mgme.2001.3174

Genes

PMM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11350185-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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