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Article

Mutation analysis of SCNN1B in a family with Liddle's syndrome.

Endocrine - 1 Jun 2006

Wang Weiqing, Zhou Weiwei, Jiang Lei, Cui Bin, Ye Lei, Su Tingwei, Wang Jiguang, Li Xiaoying, Ning Guang

Abstract excerpt

Liddle's syndrome has been known as a disorder associated with abnormal sodium reabsorption in the distal tubule and transmitted as a rare autosomal dominant trait. It is caused by mutations in the SCNN1B or SCNN1C gene, which truncate the cytoplasmic carboxyl terminus of the beta and gamma subunit of the epithelial sodium channel (ENaC). Genetic analysis of ENaC in a Chinese family with Liddle's syndrome...

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Identifiers

PMID: 16943574
DOI: 10.1385/ENDO:29:3:385

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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