Jae Wook Lee Jeonghwan Lee Nam Ju Heo Hae Il Cheong Jin Suk Han
10.3346/jkms.2016.31.1.47
J Korean Med Sci
2016 Jan;31(1):47-54.
bartter syndrome clcnkb gitelman syndrome slc12a3 salt-losing tubulopathy
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/26770037/
Chloride Channels / genetics Gitelman Syndrome / genetics
Chloride Channels / genetics Gitelman Syndrome / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Adult Alleles Bartter Syndrome / genetics Bartter Syndrome / pathology DNA Mutational Analysis Female Genetic Association Studies Genotype Gitelman Syndrome / pathology Humans Hypokalemia / etiology Male Middle Aged Phenotype Polymorphism, Genetic Solute Carrier Family 12, Member 3 / genetics Young Adult CLCNKB protein, human Chloride Channels SLC12A3 protein, human Solute Carrier Family 12, Member 3
PMC4712579
26770037
Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome
2016