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Article

The phenotypic consequences of CFTR mutations.

Annals of human genetics - 1 Sept 2003

Rowntree Rebecca K, Harris Ann

Abstract excerpt

Cystic fibrosis is a common autosomal recessive disorder that primarily affects the epithelial cells in the intestine, respiratory system, pancreas, gall bladder and sweat glands. Over one thousand mutations have currently been identified in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene that are associated with CF disease. There have been many studies on the correlation of the CFTR genotype...

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Source

Identifiers

PMID: 12940920
DOI: 10.1046/j.1469-1809.2003.00028.x

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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