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Article

Mutation analysis in 24 French patients with glycogen storage disease type 1a.

Journal of medical genetics - 1 May 1996

Chevalier-Porst F, Bozon D, Bonardot A M, Bruni N, Mithieux G, Mathieu M, Maire I

Abstract excerpt

Both alleles of 24 French glycogen storage disease type 1a patients were sequenced: 14 different mutations allowed the identification of complete genotypes for all the patients. Nine new gene alterations are reported. Five mutations, Q347X, R83C, D38V, G188R, and 158 del C, account for 75% of the mutated alleles. These data show that the molecular pathology of the glucose-6-phosphatase gene is heterogeneous in...

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Identifiers

PMID: 8733042
DOI: 10.1136/jmg.33.5.358
PMCID: PMC1050601

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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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