|
rs185927948
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Graves' disease and Gitelman syndrome.
|
26041598 |
2016 |
|
rs185927948
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Clinical and genetic analyses of Chinese patients with Gitelman syndrome.
|
27173320 |
2016 |
|
rs185927948
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Interleukin 18 function in atherosclerosis is mediated by the interleukin 18 receptor and the Na-Cl co-transporter.
|
26099046 |
2015 |
|
rs185927948
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
SLC26A3 gene analysis in patients with Bartter and Gitelman syndromes and the clinical characteristics of patients with unidentified mutations.
|
23756661 |
2013 |
|
rs185927948
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Concurrence of thyrotoxicosis and Gitelman's syndrome-associated hypokalemia-induced periodic paralysis.
|
22802996 |
2012 |
|
rs185927948
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
|
22009145 |
2012 |
|
rs185927948
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Inheritance of an autosomal recessive disorder, Gitelman's syndrome, across two generations in one family.
|
21628937 |
2011 |
|
rs185927948
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
A case of Gitelman syndrome associated with idiopathic intracranial hypertension.
|
21757836 |
2011 |
|
rs185927948
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome.
|
17873326 |
2007 |
|
rs185927948
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.
|
17654016 |
2007 |
|
rs185927948
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome.
|
17873326 |
2007 |
|
rs185927948
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome.
|
16429844 |
2006 |
|
rs185927948
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
While the T180K variation was just a polymorphism, the L849H mutation was confirmed to be a loss-of-function mutation and appears to be responsible for the Gitelman's syndrome.
|
16471174 |
2005 |
|
rs185927948
|
|
|
0.810 |
GeneticVariation |
BEFREE |
While the T180K variation was just a polymorphism, the L849H mutation was confirmed to be a loss-of-function mutation and appears to be responsible for the Gitelman's syndrome.
|
16471174 |
2005 |
|
rs185927948
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome.
|
15687331 |
2005 |
|
rs185927948
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Although the blood pressure levels of subjects heterozygous for the T180K, A569V, or L849H genotype were not significantly different from those of wild-type subjects, urine pH in subjects with GS mutations was significantly higher than that in subjects without mutations.
|
15198479 |
2004 |
|
rs185927948
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome.
|
15069170 |
2004 |
|
rs185927948
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome.
|
15069170 |
2004 |
|
rs185927948
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis.
|
12911530 |
2003 |
|
rs185927948
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome.
|
11940055 |
2002 |
|
rs185927948
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.
|
12008755 |
2002 |
|
rs185927948
|
|
|
0.810 |
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 |
|
rs185927948
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.
|
11168953 |
2001 |
|
rs185927948
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension.
|
10988270 |
2000 |
|
rs185927948
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome.
|
10616841 |
2000 |