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2
The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe.
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Novel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report.与吉特曼综合征相关的SLC12A3新型致病基因型：一例报告
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本文引用的文献

1
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome.SLC12A3 基因中的深内含子突变导致 Gitelman 综合征。
Pediatr Res. 2009 Nov;66(5):590-3. doi: 10.1203/PDR.0b013e3181b9b4d3.
2
Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.中国吉特曼综合征患者中噻嗪类敏感的氯化钠共转运体基因五个新变异的鉴定。
Nephrology (Carlton). 2009 Feb;14(1):52-8. doi: 10.1111/j.1440-1797.2008.01042.x. Epub 2009 Jan 21.
3
Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure.中国儿童中氯化钠共转运体的杂合突变：患病率及其与血压的关联。
Nephrol Dial Transplant. 2009 Apr;24(4):1170-5. doi: 10.1093/ndt/gfn619. Epub 2008 Nov 25.
4
Inherited forms of renal hypomagnesemia: an update.遗传性肾性低镁血症：最新进展
Pediatr Nephrol. 2009 Apr;24(4):697-705. doi: 10.1007/s00467-008-0968-x. Epub 2008 Sep 26.
5
A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney.一种新的SLC12A3剪接突变，导致两个外显子跳跃，并对人肾中的可变剪接变体进行初步筛选。
Am J Nephrol. 2008;28(6):900-7. doi: 10.1159/000141932. Epub 2008 Jun 26.
6
Salt wasting and blood pressure.盐耗竭与血压
Nat Genet. 2008 May;40(5):495-6. doi: 10.1038/ng0508-495.
7
The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe.
Kidney Int. 2007 Oct;72(7):898. doi: 10.1038/sj.ki.5002504.
8
Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.SLC12A3 突变的转录和功能分析：吉特曼综合征发病机制的新线索
J Am Soc Nephrol. 2007 Apr;18(4):1271-83. doi: 10.1681/ASN.2006101095. Epub 2007 Feb 28.
9
Gitelman's syndrome: towards genotype-phenotype correlations?吉特曼综合征：走向基因型与表型的相关性？
Pediatr Nephrol. 2007 Mar;22(3):326-32. doi: 10.1007/s00467-006-0321-1. Epub 2006 Oct 24.
10
Gitelman syndrome.吉特曼综合征
Adv Chronic Kidney Dis. 2006 Apr;13(2):148-54. doi: 10.1053/j.ackd.2006.01.014.

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.

DOI:10.1038/ejhg.2011.14
PMID:21343949
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3172918/
Abstract
摘要