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Article

[Cystic fibrosis: the CFTR gene, its mutations, the genetic counseling].

Revue de pneumologie clinique - 1 Jan 1995

Goossens M, Ghanem N, Girodon E, Costes B, Fanen P

Abstract excerpt

Cystic fibrosis is the most frequent autosomic recessively inherited disease in the European population. The gene implicated in this disease was cloned in 1989 but the consequences of the biochemical defect in the cell have not been fully elucidated. To date, 500 mutations of this 230 kilobase gene have been identified. These molecular anomalies each have an effect on the encoded protein (CFTR) an ion channel...

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Identifiers

PMID: 7569574

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.

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The cystic fibrosis gene and its product CFTR.Semantic proximity Read ↗

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

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