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Article

Genetic disorders of membrane transport. V. The epithelial sodium channel and its implication in human diseases.

The American journal of physiology - 1 Mar 1999

Hummler E, Horisberger J D

Abstract excerpt

The epithelial Na+ channel (ENaC) controls the rate-limiting step in the process of transepithelial Na+ reabsorption in the distal nephron, the distal colon, and the airways. Hereditary salt-losing syndromes have been ascribed to loss of function mutations in the alpha-, beta-, or gamma-ENaC subunit genes, whereas gain of function mutations (located in the COOH terminus of the beta- or gamma-subunit) result in...

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Identifiers

PMID: 10070030
DOI: 10.1152/ajpgi.1999.276.3.G567

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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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