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Article

[Functional characterization of naturally occurring CFTR mutants: interest for cystic fibrosis].

Annales de biologie clinique - 1 Jan 2000

Romey M-C

Abstract excerpt

Cystic fibrosis is caused by mutations in the CFTR gene (Cystic Fibrosis Transmembrane conductance Regulator) encodes a protein mainly functioning as a chloride channel that regulates chloride and sodium transport in secretory epithelial cells. The past several years with advances in DNA analysis have seen an increased knowledge of the mutational spectrum for cystic fibrosis. The functional characterization of...

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Source

Identifiers

PMID: 17040873

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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