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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 pancreatic and pulmonary tissues. The clinical presentation of cystic fibrosis is highly variable with isolated CAVD...

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Source

Identifiers

PMID: 8763629

Genes

CFTR

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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[Cystic fibrosis mutations in the Tunisian population].Semantic proximity Read ↗

[Identification of mutation in the gene cystic fibrosis transmembrane regulator (CFTR) in Chilean patients with cystic fibrosis].Semantic proximity Read ↗

CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent.Semantic proximity Read ↗

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

Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.Semantic proximity Read ↗

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

[Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes].Semantic proximity Read ↗

[CFTR gene sequencing in a group of Chilean patients with cystic fibrosis].Semantic proximity Read ↗

[Cystic fibrosis: relationship between genotype and phenotype].Semantic proximity Read ↗

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