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Article

Genotype and phenotype in cystic fibrosis.

Respiration; international review of thoracic diseases - 1 Jan 2000

Zielenski J

Abstract excerpt

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene which encodes a protein expressed in the apical membrane of exocrine epithelial cells. CFTR functions principally as a cAMP-induced chloride channel and appears capable of regulating other ion channels. Besides the most common mutation, DeltaF508, accounting for about 70% of CF chromosomes worldwide, more than...

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Source

Identifiers

PMID: 10773783
DOI: 10.1159/000029497

Genes

CFTR

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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