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[Analysis of novel mutations in the SLC12A3 gene of a family with Gitelman syndrome].

Zhonghua nei ke za zhi - 1 Apr 2026

Zhang J H, Zhang H, Ge W L, Yu H Y, Hu C, Chen S

Abstract excerpt

This study aimed to identify mutations in the SLC12A3 gene and investigate their role in the pathogenesis of Gitelman syndrome. Sanger sequencing of the SLC12A3 gene was performed using samples from a patient clinically suspected of having Gitelman syndrome, who was admitted to the Department of Endocrinology and Metabolism at Shanghai Fengxian District Central Hospital in August 2024. Upon identification of...

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PMID: 41942324
DOI: 10.3760/cma.j.cn112138-20250831-00513

Genes

SLC12A3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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