- Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome
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Lee JW, Lee J, Heo NJ, Cheong HI, Han JS
- KMID: 2359991
- J Korean Med Sci.
- 2016 Jan;31(1):47-54.
- doi: 10.3346/jkms.2016.31.1.47
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... -
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