rs1453871309
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
0.700
GeneticVariation
UNIPROT
Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.
19782624
2010
rs1453871309
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
0.700
GeneticVariation
UNIPROT
A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.
16609684
2006
rs1453871309
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
0.700
GeneticVariation
UNIPROT
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
15635077
2005
rs1453871309
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
0.700
GeneticVariation
UNIPROT
Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.
16138908
2005
rs1453871309
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
0.700
GeneticVariation
UNIPROT
Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.
12234283
2002
rs1453871309
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
0.700
GeneticVariation
UNIPROT
Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.
11748844
2001
rs1453871309
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
0.700
GeneticVariation
UNIPROT
Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics.
10738006
2000
rs1453871309
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
0.700
GeneticVariation
UNIPROT
Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.
9186880
1997
rs1453871309
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
0.700
GeneticVariation
UNIPROT
Mutations of the basic amino acid transporter gene associated with cystinuria.
7575432
1995
rs1453871309
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
0.700
GeneticVariation
UNIPROT
Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.
7573036
1995
rs1453871309
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
0.700
GeneticVariation
UNIPROT
Mutations in the SLC3A1 transporter gene in cystinuria.
7539209
1995
rs1453871309
×
Entrez Id:
6519
Gene Symbol:
SLC3A1
SLC3A1
Cystinuria
0.700
GeneticVariation
UNIPROT
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.
8054986
1994