|
rs121909385
|
|
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 |
|
rs121909385
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
|
22009145 |
2012 |
|
rs121909385
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: Gitelman syndrome.
|
21343949 |
2011 |
|
rs121909385
|
|
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 |
|
rs121909385
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.
|
17654016 |
2007 |
|
rs121909385
|
|
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 |
|
rs121909385
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome.
|
15687331 |
2005 |
|
rs121909385
|
|
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 |
|
rs121909385
|
|
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 |
|
rs121909385
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome.
|
11940055 |
2002 |
|
rs121909385
|
|
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 |
|
rs121909385
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.
|
11168953 |
2001 |
|
rs121909385
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension.
|
10988270 |
2000 |
|
rs121909385
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome.
|
10616841 |
2000 |
|
rs121909385
|
|
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 |
|
rs121909385
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
In conclusion, the L623P mutation in the thiazide-sensitive Na-Cl cotransporter gene is suggested to impair the transporter activity, and to underlie this familial Gitelman's syndrome; Gitelman's syndrome observed in this kindred has been inherited in an autosomal recessive fashion.
|
8954067 |
1996 |
|
rs121909385
|
|
Gitelman Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.
|
8900229 |
1996 |
|
rs121909385
|
|
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 |