Article
Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort.
American journal of nephrology - 1 Jan 2016
Ma Jun, Ren Hong, Lin Li, Zhang Chunli, Wang Zhaohui, Xie Jingyuan, Shen Ping-Yan, Zhang Wen, Wang Weiming, Chen Xiao-Nong, Chen Nan
Abstract excerpt
BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy caused by inactivating mutations in the SLC12A3 gene. Although hundreds of different mutations across the SLC12A3 gene have been reported worldwide, data from mainland China are limited. We investigated the clinical manifestations and genetic features of Chinese patients with GS. METHODS: Fifty-four unrelated Chinese patients with...
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