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Article

PMM2 intronic branch-site mutations in CDG-Ia.

Molecular genetics and metabolism - 1 Apr 2006

Vuillaumier-Barrot Sandrine, Le Bizec Christiane, De Lonlay Pascale, Madinier-Chappat Nathalie, Barnier Anne, Dupré Thierry, Durand Geneviève, Seta Nathalie

Abstract excerpt

Congenital Disorders of Glycosylation (CDG, OMIM#212065)-Ia is an autosomal recessive disorder, characterized by central nervous system dysfunction and multiorgan failure associated with mutations in the PMM2 gene. We report two patients who are compound heterozygotes with respect to two new intronic mutations that affect a highly conserved adenosine in a consensus branch-site sequence. The mutations, one in...

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Source

Identifiers

PMID: 16376131
DOI: 10.1016/j.ymgme.2005.10.015

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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