Molecular complexity analysis of the diagnosis of Gitelman syndrome in China

Molecular complexity analysis of the diagnosis of Gitelman syndrome in China

Gitelman syndrome (GS) is an autosomal recessive renal tubal disease characterized by hypomagnesemia, hypokalemia, and hypocalciuria. The disease is caused by defects in the SLC12A3 gene, which encodes the thiazide diuretic-sensitive sodium chloride cotransporter (NCCT). In this study, a 20-year-old...

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Bibliographic Details
Main Authors: Song Wei, Hu Yue, Zhao Ling, Zhang Jinming, Zhang Yu, Wen Jianxuan
Format: Article
Language:English
Published: De Gruyter 2023-06-01
Series:Open Life Sciences
Subjects:
gitelman syndrome
hypokalemia
slc12a3
Online Access:https://doi.org/10.1515/biol-2022-0634

Internet

https://doi.org/10.1515/biol-2022-0634

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