Novel heterozygous mutation of SLC12A3 gene in Gitelman syndrome

QJM. 2021 Nov 5;114(7):513-515. doi: 10.1093/qjmed/hcab066.

Authors

T Wang¹, Y Chen^{1

2}, X Yin³, H Qiu¹

Affiliations

¹ Department of Nephrology, West China Hospital, Sichuan University, Guoxue Alley No. 37, Chengdu, Sichuan Province, 610041, China.
² Department of Nephrology, Chronic Kidney Disease Administrative Center, West China Hospital, Sichuan University, Guoxue Alley No. 37, Chengdu, Sichuan Province 610041, China.
³ West China School of Medicine, West China Hospital, Sichuan University, Guoxue Alley No. 37, Chengdu, Sichuan Province 610041, China.

PMID: 33772578
DOI: 10.1093/qjmed/hcab066

No abstract available

Publication types

Case Reports

MeSH terms

Adolescent
Gitelman Syndrome* / genetics
Heterozygote
Humans
Male
Mutation
Pedigree
Solute Carrier Family 12, Member 3 / genetics

Substances

SLC12A3 protein, human
Solute Carrier Family 12, Member 3

Grants and funding

Science and Technology Fund of Sichuan