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Article

Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.

Journal of Korean medical science - 1 Jan 2016

Lee Jae Wook, Lee Jeonghwan, Heo Nam Ju, Cheong Hae Il, Han Jin Suk

Abstract excerpt

Gitelman's syndrome (GS) is caused by loss-of-function mutations in SLC12A3 and characterized by hypokalemic metabolic alkalosis, hypocalciuria, and hypomagnesemia. Long-term prognosis and the role of gene diagnosis in GS are still unclear. To investigate genotype-phenotype correlation in GS and Gitelman-like syndrome, we enrolled 34 patients who showed hypokalemic metabolic alkalosis without secondary causes....

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Source

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Identifiers

PMID: 26770037
DOI: 10.3346/jkms.2016.31.1.47
PMCID: PMC4712579

Genes

CLCNKB

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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