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Article

A mutation in the β-subunit of ENaC identified in a patient with cystic fibrosis-like symptoms has a gain-of-function effect.

American journal of physiology. Lung cellular and molecular physiology - 1 Jan 2013

Rauh Robert, Soell Daniel, Haerteis Silke, Diakov Alexei, Nesterov Viatcheslav, Krueger Bettina, Sticht Heinrich, Korbmacher Christoph

Abstract excerpt

In some patients with atypical cystic fibrosis (CF), only one allele of the CF transmembrane conductance regulator (CFTR) gene is affected. Mutations of the epithelial sodium channel (ENaC) may contribute to the pathophysiology of the disease in these patients. To functionally characterize a mutation in the β-subunit of ENaC (βV348M) recently identified in a patient with severe CF-like symptoms (Mutesa et al....

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Identifiers

PMID: 23087020
DOI: 10.1152/ajplung.00093.2012

Genes

CFTR

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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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A mutation in the β-subunit of ENaC identified in a patient with cystic fibrosis-like symptoms has a gain-of-function effect.PMID 23087020Read ↗

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