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Article

Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation.

The Journal of clinical endocrinology and metabolism - 1 Aug 2012

Tseng Min-Hua, Yang Sung-Sen, Hsu Yu-Juei, Fang Yu-Wei, Wu Chih-Jen, Tsai Jeng-Daw, Hwang Daw-Yang, Lin Shih-Hua

Abstract excerpt

CONTEXT AND OBJECTIVE: Genotype, phenotype, and follow-up analysis is rarely performed in a large number of patients with Gitelman's syndrome (GS) caused by mutations in SLC12A3 encoding the thiazide-sensitive NaCl cotransporter. DESIGN, SETTING, AND PATIENTS: One hundred seventeen Taiwanese GS patients (70 males and 47 females, age 24 ± 10 yr) with SLC12A3 mutations belonging to 92 unrelated families were...

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Identifiers

PMID: 22679066
DOI: 10.1210/jc.2012-1707

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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