×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
1.000
Biomarker
CLINGEN
Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria.
28049243
2017
×
Entrez Id:
11136
Gene Symbol:
SLC7A9
SLC7A9
Cystinuria
1.000
Biomarker
CLINGEN
Proteomics. Tissue-based map of the human proteome.
25613900
2015
×
Entrez Id:
11136
Gene Symbol:
SLC7A9
SLC7A9
Cystinuria
1.000
Biomarker
CLINGEN
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.
25296721
2015
×
Entrez Id:
11136
Gene Symbol:
SLC7A9
SLC7A9
Cystinuria
1.000
Biomarker
CLINGEN
Molecular characterization of cystinuria in south-eastern European countries.
23532419
2013
×
Entrez Id:
11136
Gene Symbol:
SLC7A9
SLC7A9
Cystinuria
1.000
Biomarker
CLINGEN
Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype.
18332091
2008
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
1.000
Biomarker
CLINGEN
Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype.
18332091
2008
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
1.000
Biomarker
CLINGEN
Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria.
16374432
2006
×
Entrez Id:
11136
Gene Symbol:
SLC7A9
SLC7A9
Cystinuria
1.000
Biomarker
CLINGEN
Mutation analyses of SLC7A9 and SLC3A1 genes were performed on 41 cystinuria patients.
16609684
2006
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
1.000
Biomarker
CLINGEN
Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.
16138908
2005
×
Entrez Id:
11136
Gene Symbol:
SLC7A9
SLC7A9
Cystinuria
1.000
Biomarker
CLINGEN
Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.
12915471
2003
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
1.000
Biomarker
CLINGEN
A mouse model for cystinuria type I.
12923163
2003
×
Entrez Id:
11136
Gene Symbol:
SLC7A9
SLC7A9
Cystinuria
1.000
Biomarker
CLINGEN
The light subunit of system b(o,+) is fully functional in the absence of the heavy subunit.
12234930
2002
×
Entrez Id:
11136
Gene Symbol:
SLC7A9
SLC7A9
Cystinuria
1.000
Biomarker
CLINGEN
Here we describe the genomic structure of SLC7A9 (13 exons) and 28 new mutations in this gene that, together with the seven previously reported, explain 79% of the alleles in 61 non-Type I cystinuria patients.
11157794
2001
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
1.000
Biomarker
CLINGEN
Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs.
11129328
2000
×
Entrez Id:
11136
Gene Symbol:
SLC7A9
SLC7A9
Cystinuria
1.000
Biomarker
CLINGEN
We have found SLC7A9 mutations in Libyan-Jews, North American, Italian and Spanish non-type I cystinuria patients.
10471498
1999
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
1.000
Biomarker
CLINGEN
We investigated 20 cystinuria patients from Quebec (8 Type I/I, 9 Type I/III and 3 Type II/N) for mutations in SLC3A1 .
9648062
1998
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
1.000
Biomarker
CLINGEN
Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism.
8792820
1996
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
1.000
Biomarker
CLINGEN
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.
8054986
1994
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
1.000
Biomarker
CLINGEN
Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport.
8486766
1993