Associated Papers
Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
Ajayi JA et al.
Current Research in Physiology, 2025
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.
Gaildrat P et al.
Molecular Genetics & Genomic Medicine, 2017
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.
Bisceglia L et al.
Molecular Genetics and Metabolism, 2010
An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.
Chatzikyriakidou A et al.
Molecular Genetics and Metabolism, 2008
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Louizou E et al.
Human Genetics, 2007
Identification of novel cystinuria mutations in pediatric patients.
Brauers E et al.
Journal of Pediatric Urology, 2006
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
Nunes M et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V et al.
Human Genetics, 2005
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
Font-Llitjós M et al.
Journal of Medical Genetics, 2005
Genomic and functional investigations of mutations of the SLC3A1 gene in cystinuria.
Lahme S et al.
Urologia Internationalis, 2002
[Cystinuria and cystine kidney lithiasis. Diagnosis and therapeutic approach].
Rousaud F et al.
Archivos Espanoles De Urologia, 2001
Cystinuria type I: identification of eight new mutations in SLC3A1.
Bisceglia L et al.
Kidney International, 2001
Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism.
Bisceglia L et al.
Human Genetics, 1996
The molecular basis of cystinuria: the role of the rBAT gene.
Palacín M et al.
Amino Acids, 1996
Molecular genetics of cystinuria in French Canadians: identification of four novel mutations in type I patients.
Horsford J et al.
Kidney International, 1996