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Article

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.

Molecular genetics and metabolism - 1 Apr 2007

Schollen Els, Keldermans Liesbeth, Foulquier François, Briones Paz, Chabas Amparo, Sánchez-Valverde Félix, Adamowicz Maciej, Pronicka Ewa, Wevers Ron, Matthijs Gert

Abstract excerpt

Congenital disorders of glycosylation type Ia (CDG-Ia) is a recessive metabolic disorder caused by mutations in the PMM2 gene and characterized by a defect in the synthesis of N-glycans. The clinical presentation ranges from very severe multi-organ failure to mild neurological problems. A plethora of PMM2 mutations has been described and the vast majority are missense mutations. This selection reflects the...

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Source

Identifiers

PMID: 17307006
DOI: 10.1016/j.ymgme.2007.01.003

Genes

PMM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.PMID 17307006Read ↗

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