Clinical utility gene card for: Gitelman syndrome.
作者信息
Knoers Nine Vam, Devuyst Olivier, Kamsteeg Erik-Jan
机构信息
Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
出版信息
Eur J Hum Genet. 2011 Aug;19(8). doi: 10.1038/ejhg.2011.14. Epub 2011 Feb 23.
Abstract
摘要
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A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome.
Pediatr Res. 2009 Nov;66(5):590-3. doi: 10.1203/PDR.0b013e3181b9b4d3.
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Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.
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Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure.
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