A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review-Reference-Cited by-同舟云学术

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A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review

Published:2020-07-25 Issue:9 Volume:42 Page:1035-1040
ISSN:1976-9571
Container-title:Genes & Genomics
language:en
Short-container-title:Genes Genom

Author:

Yang Minglan,Dong Ying,Tian Jianqing,Yan Li,Chen Yawen,Qiu Huiying,Liu Wei,Hu Yaomin

Funder

Key Programme

Young Scientists Fund

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

https://link.springer.com/content/pdf/10.1007/s13258-020-00960-6.pdf

Reference22 articles.

1. Blanchard A, Bockenhauer D, Bolignano D, Calo LA, Cosyns E, Devuyst O, Ellison DH, Karet Frankl FE, Knoers NV, Konrad M et al (2017) Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int 91:24–33

2. Bonfante L, Davis PA, Spinello M, Antonello A, D'Angelo A, Semplicini A, Calo L (2001) Chronic renal failure, end-stage renal disease, and peritoneal dialysis in Gitelman's syndrome. Am J Kidney Dis 38:165–168

3. Cho YH, Gitelman S, Rosenthal S, Ambler G (2009) Long-term outcomes in a family with nephrogenic syndrome of inappropriate antidiuresis. Int J Pediatr Endocrinol 2009:431527

4. Coto E, Rodriguez J, Jeck N, Alvarez V, Stone R, Loris C, Rodriguez LM, Fischbach M, Seyberth HW, Santos F (2004) A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies. Kidney Int 65:25–29

5. Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB (2001) Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int 59:710–717

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel mutation of SLC12A3 gene causing Gitelman syndrome;SAGE Open Medical Case Reports;2022-01

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