Associated Papers
Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
Ajayi JA et al.
Current Research in Physiology, 2025
Molecular identification of missense variants in SLC3A1 gene; an approach leading to computer-aided drug design for cystinuria.
Zafar R et al.
Gene, 2023
Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience.
Jeong JY et al.
Biomedicines, 2023
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
Martell HJ et al.
Bmc Genomics, 2017
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
Molecular characterization of cystinuria in south-eastern European countries.
Popovska-Jankovic K et al.
Urolithiasis, 2013
Cystinuria: an inborn cause of urolithiasis.
Eggermann T et al.
Orphanet Journal of Rare Diseases, 2012
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
Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria.
Yuen YP et al.
Kidney International, 2006
Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.
Skopková Z et al.
Annals of 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
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
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