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Article

Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel.

Clinical endocrinology - 1 Feb 2009

Riepe Felix G, van Bemmelen Miguel X P, Cachat Francois, Plendl Hansjörg, Gautschi Ivan, Krone Nils, Holterhus Paul-Martin, Theintz Gerald, Schild Laurent

Abstract excerpt

OBJECTIVE: Pseudohypoaldosteronism type I (PHA1) is a rare inborn disease causing severe salt loss. Mutations in the three coding genes of the epithelial sodium channel (ENaC) are responsible for the systemic autosomal recessive form. So far, no phenotype has been reported in heterozygous carrier...

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Source

Identifiers

PMID: 18547339
DOI: 10.1111/j.1365-2265.2008.03314.x

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CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18547339-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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