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Article

Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.

Journal of inherited metabolic disease - 1 Jan 2004

Trioche P, Petit F, Francoual J, Gajdos V, Capel L, Poüs C, Labrune P

Abstract excerpt

Eleven patients with glycogen storage disease type Ib (GSD Ib) were studied. Using a combination of single-strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 21/22 mutant alleles comprising 12 different mutations in the glucose-6-phosphate translocase gene (G6PT). Among these, one is a novel mutation of G6PT: 855T>C (L229P).

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Identifiers

PMID: 15669677
DOI: 10.1023/b:boli.0000042987.43395.c6

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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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