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Article

Gain-of-function variant of the human epithelial sodium channel.

American journal of physiology. Renal physiology - 15 Jan 2013

Chen Jingxin, Kleyman Thomas R, Sheng Shaohu

Abstract excerpt

Epithelial Na(+) channel (ENaC) mutations are associated with several human disorders, underscoring the importance of these channels in human health. Recent human genome sequencing projects have revealed a large number of ENaC gene variations, several of which have been found in individuals with salt-sensitive hypertension, cystic fibrosis, and other disorders. However, the functional consequences of most...

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Identifiers

PMID: 23136006
DOI: 10.1152/ajprenal.00563.2012
PMCID: PMC3543625

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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