Associated Papers
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
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
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
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
The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.
Schmidt C et al.
Urological Research, 2004
[Cystinuria update: clinical, biochemical and genetic aspects].
Orts Costa JA et al.
Anales De Medicina Interna (madrid, Spain : 1984), 2003
Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.
Botzenhart E et al.
Kidney International, 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
Association between M467T and 114 C-->A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain.
Guillén M et al.
Human Genetics, 2000
Progressive C-terminal deletions of the renal cystine transporter, NBAT, reveal a novel bimodal pattern of functional expression.
Deora AB et al.
The Journal of Biological Chemistry, 1998
Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype.
Saadi I et al.
Kidney International, 1998
Cystinuria subtype and the risk of nephrolithiasis.
Goodyer P et al.
Kidney International, 1998
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
The molecular basis of cystinuria: an update.
Goodyer P et al.
Experimental Nephrology, 0