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[Clinical significance of thiazide-sensitive Na-Cl cotransporter gene by mutational analysis].

Rinsho byori. The Japanese journal of clinical pathology - 1 Apr 2007

Yasujima Minoru

Abstract excerpt

Thiazide-sensitive Na-Cl cotransporter (TSC, SLC12A3) is located on chromosome 16q13 and is expressed specifically in the renal distal convoluted tubule, where it mediates the reabsorption of Na+ and Cl-. Mutation of TSC is known to be responsible for Gitelman's syndrome, an autosomal recessive renal tubular disorder characterized by low blood pressure due to renal sodium wasting, hypokalemia, metabolic...

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PMID: 17511264

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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