Copyright
©The Author(s) 2022.
World J Clin Cases. Jun 16, 2022; 10(17): 5893-5898
Published online Jun 16, 2022. doi: 10.12998/wjcc.v10.i17.5893
Published online Jun 16, 2022. doi: 10.12998/wjcc.v10.i17.5893
Gene | Zone | Reference sequence | Location | cDNA level | Protein level | Status | Classification of variation |
SLC12A3 | 16q13 | NM_000339.2 | Exon1 | c.248G>A | p.Arg83G1n | Heterozygosis | Suspicious pathologically |
SLC12A3 | 16q13 | NM_000339.2 | Exon21 | c.2532G>A | p.Trp844* | Heterozygosis | Pathological |
- Citation: Chen SY, Jie N. Gitelman syndrome: A case report. World J Clin Cases 2022; 10(17): 5893-5898
- URL: https://www.wjgnet.com/2307-8960/full/v10/i17/5893.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v10.i17.5893