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Article

PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.

Human mutation - 1 Nov 2000

Bjursell C, Erlandson A, Nordling M, Nilsson S, Wahlström J, Stibler H, Kristiansson B, Martinsson T

Abstract excerpt

Carbohydrate-deficient glycoprotein syndrome type IA (CDG IA) is an autosomal recessive disease characterized clinically by severe involvement of the central and peripheral nervous system, and biochemically by complex defects in carbohydrate residues in a number of serum glycoproteins. CDG IA is caused by mutations in the PMM2 gene located in chromosome region 16p13. In this study, 61 CDG type IA patients (122...

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Source

Identifiers

PMID: 11058896
DOI: 10.1002/1098-1004(200011)16:5<395::AID-HUMU3>3.0.CO;2-T

Genes

PMM2

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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PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.PMID 11058896Read ↗

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