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Article

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel.

Cell - 4 Nov 1994

Shimkets R A, Warnock D G, Bositis C M, Nelson-Williams C, Hansson J H, Schambelan M, Gill J R, Ulick S, Milora R V, Findling J W

Abstract excerpt

Liddle's syndrome (pseudoaldosteronism) is an autosomal dominant form of human hypertension characterized by a constellation of findings suggesting constitutive activation of the amiloride-sensitive distal renal epithelial sodium channel. We demonstrate complete linkage of the gene encoding the beta subunit of the epithelial sodium channel to Liddle's syndrome in Liddle's original kindred. Analysis of this gene...

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PMID: 7954808
DOI: 10.1016/0092-8674(94)90250-x

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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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Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel.PMID 7954808Read ↗

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The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel.Semantic proximity Read ↗

Liddle's syndrome: heritable human hypertension caused by mutations in the Beta subunit of the epithelial sodium channel.Semantic proximity Read ↗

A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system.Semantic proximity Read ↗

Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.Semantic proximity Read ↗

The ENaC channel as the primary determinant of two human diseases: Liddle syndrome and pseudohypoaldosteronism.Semantic proximity Read ↗

Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.Semantic proximity Read ↗

A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle SyndromeSemantic proximity Read ↗

Mutations and variants of the epithelial sodium channel gene in Liddle's syndrome and primary hypertension.Semantic proximity Read ↗

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