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Article

Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations.

Human genetics - 1 May 2001

Erlandson A, Bjursell C, Stibler H, Kristiansson B, Wahlström J, Martinsson T

Abstract excerpt

Congenital disorders of glycosylation type Ia, (previous name carbohydrate-deficient glycoprotein syndrome type Ia; CDG-Ia) is an inherited disorder of the glycosylation of certain glycoproteins. The defect is caused by mutations in the phosphomannomutase 2 (PMM2) gene located in chromosome region 16p13. The purpose of this study was twofold: (1) to investigate the possible correlation between certain genotypes...

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Source

Identifiers

PMID: 11409861
DOI: 10.1007/s004390100489

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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