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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...

Topics

Base Sequence
DNA Mutational Analysis
France
Genotype
Glycogen Storage Disease Type I
Humans
Molecular Sequence Data
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8733042-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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