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Article

Liddle's syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit.

Journal of hypertension - 1 May 2008

Rossi Ermanno, Farnetti Enrico, Debonneville Anne, Nicoli Davide, Grasselli Chiara, Regolisti Giuseppe, Negro Aurelio, Perazzoli Franco, Casali Bruno, Mantero Franco, Staub Olivier

Abstract excerpt

OBJECTIVE: The aim of the study was to search for mutations of SCNN1B and SCNN1G in an Italian family with apparently dominant autosomal transmission of a clinical phenotype consistent with Liddle's syndrome. METHODS: Genetic analysis was performed in the proband, his relatives, and 100 control subjects. To determine the functional role of the mutation identified in the proband, we expressed the mutant or...

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Source

Identifiers

PMID: 18398334
DOI: 10.1097/HJH.0b013e3282f85dfe

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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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