Associated Papers
Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis.
Wang X et al.
Kidney International Reports, 2025
40814648 (PubMed )
Supplement: mmc1.pdf
Molecular identification of missense variants in SLC3A1 gene; an approach leading to computer-aided drug design for cystinuria.
Zafar R et al.
Gene, 2023
Computational analysis identifies druggable mutations in human rBAT mediated Cystinuria.
Pandey B et al.
Journal of Biomolecular Structure & Dynamics, 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
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: SLC3A1. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
Mutation analysis of SLC7A9 in cystinuria patients in Sweden.
Harnevik L et al.
Genetic Testing, 2003
Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.
Harnevik L et al.
Human Mutation, 2001
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