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Article

Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.

Human mutation - 1 Nov 2000

Trioche P, Francoual J, Chalas J, Capel L, Lindenbaum A, Odièvre M, Labrune P

Abstract excerpt

Forty-eight patients with glycogen storage disease type Ia (GSD Ia) were studied. Using a combination of single-strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 93/96 mutant alleles, comprising 23 different mutations in the glucose-6-phosphatase gene (G6PC). Among these, 7 are novel mutations of G6PC: M5R, T111I, A241T, C270R, F322L,...

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Identifiers

PMID: 11058903
DOI: 10.1002/1098-1004(200011)16:5<444::AID-HUMU10>3.0.CO;2-F

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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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