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Article

Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome.

The Journal of clinical endocrinology and metabolism - 1 May 2005

Lin Shih-Hua, Shiang Jen-Chuan, Huang Che-Chung, Yang Sung-Sen, Hsu Yu-Juei, Cheng Chih-Jen

Abstract excerpt

Inactivation mutations of the luminal thiazide-sensitive NaCl cotransporter (NCC) in the distal convoluted tubules or the basolateral chloride channel (CLCNKB) in the distal nephron are the most common genetic mutations in Gitelman's syndrome (GS) or Bartter's syndrome (BS). We conducted clinical and molecular studies in Chinese patients with GS or BS. Twenty patients with chronic hypokalemia (15 males and five...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15687331
DOI: 10.1210/jc.2004-1905

Genes

CLCNKB

Provenance

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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A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes.Semantic proximity Read ↗

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