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Article

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

Hypertension (Dallas, Tex. : 1979) - 1 May 1998

Melander O, Orho M, Fagerudd J, Bengtsson K, Groop P H, Mattiasson I, Groop L, Hulthén U L

Abstract excerpt

Liddle's syndrome is a rare monogenic form of hypertension caused by truncating or missense mutations in the C termini of the epithelial sodium channel beta- or gamma-subunits. These mutations delete or alter a conserved proline-rich amino acid sequence referred to as the PY-motif. We report here a Liddle's syndrome family with a betaArg564X mutation with a premature stop codon deleting the PY-motif of the...

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Identifiers

PMID: 9576123
DOI: 10.1161/01.hyp.31.5.1118

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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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