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Article

Frequency of the hyperactive W493R ENaC variant in carriers of a CFTR mutation.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jan 2012

Handschick Melanie, Hedtfeld Silke, Tümmler Burkhard

Abstract excerpt

BACKGROUND: The basic defect of the autosomal recessive disorder cystic fibrosis (CF) manifests in chloride hyposecretion and sodium hyperabsorption. CF-like disease has been reported in a heterozygous carrier of F508del CFTR and the hyperactive variant p.W493R-SCNN1A of the epithelial sodium channel (ENaC). METHODS: The hypothesis that heterozygosity for p.W493R-SCNN1A and one loss-of-function CFTR mutation...

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Source

Identifiers

PMID: 21917531
DOI: 10.1016/j.jcf.2011.08.008

Genes

CFTR

Provenance

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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