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
Longitudinal Analyses of Mutational Subclonal Architecture and Tumor Subtypes in Recurrent Bladder Cancer.
Ryu D et al.
International Journal of Molecular Sciences, 2023
37176124 (PubMed )
Supplement: ijms-24-08418-s001.zip › Supplementary_Table_S2.xlsx › MUT_P1
Clinical profile of a Polish cohort of children and young adults with cystinuria.
Tkaczyk M et al.
Renal Failure, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
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_S10
The genetic diversity of cystinuria in a UK population of patients.
Wong KA et al.
Bju International, 2015
Molecular characterization of cystinuria in south-eastern European countries.
Popovska-Jankovic K et al.
Urolithiasis, 2013
Identification of novel cystinuria mutations in pediatric patients.
Brauers E et al.
Journal of Pediatric Urology, 2006
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
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