- 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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- Novel CLCN1 Mutations and Clinical Features of Korean Patients with Myotonia Congenita
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Moon IS, Kim HS, Shin JH, Park YE, Park KH, Shin YB, Bae JS, Choi YC, Kim DS
- KMID: 1783130
- J Korean Med Sci.
- 2009 Dec;24(6):1038-1044.
- doi: 10.3346/jkms.2009.24.6.1038
Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1). We performed sequence analysis of all coding... -
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