A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia

被引:0
作者
Wenjun Yang
Shaoli Zhao
Yanhong Xie
Zhaohui Mo
机构
[1] Central South University,The Endocrinology Department of the Third Xiangya Hospital
来源
BMC Nephrology | / 19卷
关键词
Gitelman syndrome; gene mutation; Hypocalcemia;
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[1]  
Gitelman HJ(1966)Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia Trans Assoc Am Phys 79 221-235
[2]  
Graham JB(1996)Novel molecular variants of the Na-cl cotransporter gene are responsible for Gitelman syndrome Am J Hum Genet 59 1019-1026
[3]  
Mastroianni N(2013)PriVar: a toolkit for prioritizing SNVs and indels from next-generation sequencing data Bioinformatics 29 124-125
[4]  
Bettinelli A(2017)Gitelman syndrome: consensus and guidance from a kidney disease: improving global outcomes (KDIGO) controversies conference Kidney Int 91 24-33
[5]  
Bianchetti M(2016)Genetic features of Chinese patients with Gitelman syndrome: sixteen novel SLC12A3 mutations identified in a new cohort Am J Nephrol 44 113-121
[6]  
Zhang L(2017)Mutation profile and treatment of Gitelman syndrome in Chinese patients Clin Exp Nephrol 21 293-299
[7]  
Zhang J(2007)The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe Kidney Int 72 898-655
[8]  
Yang J(2006)Gitelman-like syndrome after cisplatin therapy: a case report and literature review BMC Nephrol 7 10-e98
[9]  
Blanchard A(2017)Acquired Gitelman syndrome in a primary Sjogren syndrome patient with a SLC12A3 heterozygous mutation: a case report and literature review Nephrology (Carlton) 22 652-1167
[10]  
Bockenhauer D(2011)Acquired Gitelman syndrome associated with Sjogren’s syndrome and scleroderma Rev Med Interne 32 e96-1131