Identification of two novel mutations inSLC12A3gene in two Chinese pedigrees with Gitelman syndrome and review of literature-Reference-Cited by-同舟云学术

Identification of two novel mutations inSLC12A3gene in two Chinese pedigrees with Gitelman syndrome and review of literature

Published:2015-06-15 Issue:6 Volume:83 Page:985-993
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Li Congcong¹²³,Zhou Xinli¹²³,Han Wenxia¹²³,Jiang Xiuyun¹²³,Liu Jia¹²³,Fang Li¹²³,Wang Hai¹²³,Guan Qingbo¹²³,Gao Ling²³⁴,Zhao Jiajun¹²³,Xu Jin¹²³,Xu Chao¹²³

Affiliation:

1. Department of Endocrinology; Shandong Provincial Hospital affiliated to Shandong University; Jinan Shandong China

2. Institute of Endocrinology and Metabolism; Shandong Academy of Clinical Medicine; Jinan Shandong China

3. Shandong Clinical Medical Center of Endocrinology and Metabolism; Jinan Shandong China

4. Scientific Center; Shandong Provincial Hospital affiliated to Shandong University; Jinan Shandong China

Funder

National Natural Science Foundation of China

Natural Science Foundation

International cooperation

Medicine and Health Technology Development Project

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Reference35 articles.

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2. Narrative review: evolving concepts in potassium homeostasis and hypokalemia;Greenlee;Annals of Internal Medicine,2009

3. Gitelman syndrome;Knoers;Orphanet Journal of Rare Diseases,2008

4. A pedigree analysis of two homozygous mutant Gitelman syndrome cases;Luo;Endocrine Journal,2015

5. Molecular physiology and pathophysiology of electroneutral cation-chloride cotransporters;Gamba;Physiological Reviews,2005

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1. Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome;Clinical Endocrinology;2022-12-28

2. R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome;Frontiers of Medicine;2022-11-12

3. Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review;WORLD J CLIN CASES;2022

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