rs151340630
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Heterogeneity in the processing of CLCN5 mutants related to Dent disease.
|
21305656 |
2011 |
rs151340630
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing.
|
19657328 |
2009 |
rs151340630
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.
|
19019917 |
2009 |
rs151340630
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease.
|
18025833 |
2007 |
rs151340630
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.
|
17262170 |
2007 |
rs151340630
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study.
|
16822791 |
2006 |
rs151340630
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Family history may be misleading in the diagnosis of Dent's disease.
|
16416111 |
2006 |
rs151340630
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy.
|
16247550 |
2006 |
rs151340630
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Evidence for genetic heterogeneity in Dent's disease.
|
15086899 |
2004 |
rs151340630
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.
|
9853249 |
1998 |
rs151340630
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
X-linked recessive nephrolithiasis: presentation and diagnosis in children.
|
9602200 |
1998 |
rs151340630
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A second family with XLRH displays the mutation S244L in the CLCN5 gene.
|
9187673 |
1997 |
rs151340630
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.
|
9259268 |
1997 |
rs151340630
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A common molecular basis for three inherited kidney stone diseases.
|
8559248 |
1996 |
rs151340630
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|