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Article

Mutation analysis in 600 French cystic fibrosis patients.

Journal of medical genetics - 1 Jul 1994

Chevalier-Porst F, Bonardot A M, Gilly R, Chazalette J P, Mathieu M, Bozon D

Abstract excerpt

The cystic fibrosis transmembrane conductance regulator (CFTR) gene of 600 unrelated cystic fibrosis (CF) patients living in France (excluding Brittany) was screened for 105 different mutations. This analysis resulted in the identification of 86% of the CF alleles and complete genotyping of 76% of the patients. The most frequent mutations in this population after delta F508 (69% of the CF chromosomes) are G542X...

Topics

Alleles
Base Sequence
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA Mutational Analysis
DNA Probes
Exons
France
Haplotypes
Humans
Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 7525963
DOI: 10.1136/jmg.31.7.541
PMCID: PMC1049976

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7525963-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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