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Article

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.

Human molecular genetics - 15 Nov 2005

Sheridan Molly B, Fong Peying, Groman Joshua D, Conrad Carol, Flume Patrick, Diaz Ruben, Harris Christopher, Knowles Michael, Cutting Garry R

Abstract excerpt

Cystic fibrosis (CF) is an autosomal recessive disorder of Cl(-) and Na(+) transport. The vast majority of CF patients have deleterious mutations in an epithelial Cl(-) channel called the CF transmembrane conductance regulator (CFTR). In contrast, defects in the epithelial Na(+) channel (SCNN1) have been associated with phenotypes dominated by renal disease (systemic pseudohypoaldosteronism type I and Liddle...

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Identifiers

PMID: 16207733
DOI: 10.1093/hmg/ddi374

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.PMID 16207733Read ↗

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