Results 181 to 190 of about 7,281,051 (191)

[Identification of pathological variants of SLC12A3 gene in a pedigree affected with Gitelman syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2020
Qian Ma, Jinlin Wu, L. Che, X. Kong
semanticscholar   +1 more source

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome

Human Mutation, 2002
Marie-Louise Syrén, Giacomo Colussi, Alberto Edefonti   +2 more
exaly  

A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies

Kidney International, 2004
Eliecer Coto, Julian Rodriguez, Victoria Alvarez   +2 more
exaly  

Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree

Genes, 2021
exaly  

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain

Kidney International, 1998
Corinne Antignac, Jean-Claude Carel
exaly  

Identification of two novel mutations in SLC12A3 gene in two Chinese pedigrees with Gitelman syndrome and review of literature

Clinical Endocrinology, 2015
Congcong Li, Xinli Zhou, W. Han, Xiu-yun Jiang, Jia Liu, L. Fang, Hai Wang, Q. Guan, Ling Gao, Jiajun Zhao, Jin Xu, Chao Xu   +11 more
semanticscholar   +1 more source

A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review

Journal of Endocrinological Investigation, 2015
exaly  

A new mutation in SLC12A3 gene causes Gitelman syndrome

, 2019
Jing Wang, Lingyu Zhang, Hongjie Fan, Yao Qin   +3 more
semanticscholar   +1 more source

A novel homozygous stop gain mutation in SLC12A3 gene cause Gitelman syndrome in Saudi consanguineous family

, 2017
M. Naseer, O. Muthaffar, Mahmood Rasool, A. Abdulkareem, M. Jafri, Peter Natesan Pushparaj, Gauthaman Kalamegam, A. Chaudhary, M. Al-Qahtani   +8 more
semanticscholar   +1 more source

Gitelman syndrome due to two novel mutations in SLC12A3 gene

2012
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