Associated Papers
Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.
Huang L et al.
Molecular Genetics and Genomics : Mgg, 2022
Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study.
Alghamdi M et al.
Frontiers in Pediatrics, 2020
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
Martell HJ et al.
Bmc Genomics, 2017
28812535 (PubMed )
Supplement: 12864_2017_3913_MOESM1_ESM.xlsx › Table_S9
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
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
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.
Font MA et al.
Human Molecular Genetics, 2001
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