|
rs371443644
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Clinical and genetic analyses of Chinese patients with Gitelman syndrome.
|
27173320 |
2016 |
|
rs371443644
|
|
|
0.830 |
GeneticVariation |
BEFREE |
T60M and D486N were most frequent and appear to be important candidate alleles in Chinese patients with GS.
|
27454426 |
2016 |
|
rs371443644
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
T60M and D486N were most frequent and appear to be important candidate alleles in Chinese patients with GS.
|
27454426 |
2016 |
|
rs371443644
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
He had a homozygous mutation in the 179(th) nucleotide of Exon 1 on the SLC12A3 gene (p.Thr60Met) and his parents and sisters were diagnosed as carrier state of Gitelman's syndrome (GS).
|
27453715 |
2016 |
|
rs371443644
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Interleukin 18 function in atherosclerosis is mediated by the interleukin 18 receptor and the Na-Cl co-transporter.
|
26099046 |
2015 |
|
rs371443644
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Clinical severity of Gitelman syndrome determined by serum magnesium.
|
24776766 |
2014 |
|
rs371443644
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
A T60M mutation in the thiazide-sensitive sodium chloride cotransporter (NCC) is common in patients with Gitelman's syndrome (GS).
|
23833262 |
2013 |
|
rs371443644
|
|
|
0.830 |
GeneticVariation |
BEFREE |
A T60M mutation in the thiazide-sensitive sodium chloride cotransporter (NCC) is common in patients with Gitelman's syndrome (GS).
|
23833262 |
2013 |
|
rs371443644
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
|
22009145 |
2012 |
|
rs371443644
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Gitelman syndrome.
|
21343949 |
2011 |
|
rs371443644
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Four mutations (p.T60M, p.T304M, p.T465P, and p.N611T) harbored by the two patients with both PA and GS were revealed to be loss-of-function variants.
|
19451210 |
2009 |
|
rs371443644
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.
|
19207868 |
2009 |
|
rs371443644
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Thr60Met may be the most common mutation in Chinese patients with GS.
|
18287808 |
2008 |
|
rs371443644
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Thr60Met may be the most common mutation in Chinese patients with GS.
|
18287808 |
2008 |
|
rs371443644
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome.
|
17873326 |
2007 |
|
rs371443644
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.
|
17654016 |
2007 |
|
rs371443644
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome.
|
16429844 |
2006 |
|
rs371443644
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome.
|
15687331 |
2005 |
|
rs371443644
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome.
|
15069170 |
2004 |
|
rs371443644
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome.
|
15069170 |
2004 |
|
rs371443644
|
|
|
0.830 |
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 |
|
rs371443644
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome.
|
11940055 |
2002 |
|
rs371443644
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.
|
12008755 |
2002 |
|
rs371443644
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.
|
11168953 |
2001 |
|
rs371443644
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension.
|
10988270 |
2000 |