Three uncommon mutations of the SLC12A3 gene in gitelman syndrome: case reports and review of the literature

被引:0
作者
Melis Akpinar Gozetici
Fadime Ersoy Dursun
Hasan Dursun
机构
[1] Sancaktepe Şehit Prof. Dr. Ilhan Varank Training and Research Hospital,Department of Pediatrics
[2] Istanbul Medeniyet University Goztepe Training and Research Hospital,Department of Hematology
[3] Okmeydani Training and Research Hospital,Department of Paediatric Nephrology
[4] Health Science University,undefined
来源
Egyptian Journal of Medical Human Genetics | / 23卷
关键词
Gitelman syndrome; Hypokalemia; Hypomagnesemia; SLC12A3 gene mutations;
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Bolignano D(1969)A familial disorder characterized by hypokalemia and hypomagnesemia Ann N Y Acad Sci 162 856-864
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