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Article

[Epidemiologic study of the cystic fibrosis gene in the Champagne-Ardenne region].

Annales de biologie clinique - 1 Jan 1996

Clavel C, Pennaforte F, Pigeon F, Mozelle M, Boutterin M C, Duval-Binninger I, F-erec C, Birembaut P

Abstract excerpt

Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder among Caucasians and is caused by abnormalities in the cystic fibrosis transmembrane conductance regulator gene (CFTR). CFTR gene encodes a chloride channel that regulates secretion in many exocrine tissues especially pan...

Topics

Adolescent
Adult
Child
Child, Preschool
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
France
Genotype
Humans
Infant
Mutation
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 8763629

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8763629-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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[Molecular diagnosis of cystic fibrosis].Semantic proximity Read ↗

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[Cystic fibrosis--the most frequent life-shortening autosomal recessive disease].Semantic proximity Read ↗

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