|
rs200697179
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Interleukin 18 function in atherosclerosis is mediated by the interleukin 18 receptor and the Na-Cl co-transporter.
|
26099046 |
2015 |
|
rs200697179
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
|
22009145 |
2012 |
|
rs200697179
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: Gitelman syndrome.
|
21343949 |
2011 |
|
rs200697179
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.
|
17654016 |
2007 |
|
rs200697179
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome.
|
17873326 |
2007 |
|
rs200697179
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome.
|
16429844 |
2006 |
|
rs200697179
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome.
|
15687331 |
2005 |
|
rs200697179
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome.
|
15069170 |
2004 |
|
rs200697179
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome.
|
11940055 |
2002 |
|
rs200697179
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.
|
12112667 |
2002 |
|
rs200697179
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.
|
12008755 |
2002 |
|
rs200697179
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.
|
11168953 |
2001 |
|
rs200697179
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension.
|
10988270 |
2000 |
|
rs200697179
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Although further in vitro study is required to prove that the mutations are responsible for GS, it is possible that Thr180Lys and Arg642Cys mutations might be common mutations in Japanese GS.
|
10616841 |
2000 |
|
rs200697179
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.
|
9734597 |
1998 |
|
rs200697179
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome.
|
8954067 |
1996 |
|
rs200697179
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.
|
8528245 |
1996 |
|
rs200697179
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.
|
8900229 |
1996 |