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
A Novel Variant in Iranian Patient with Cystinuria: A Case Report.
Mardi A et al.
Iranian Journal of Public Health, 2021
Pediatric Cystinuria Patient With Novel Mutation in SLC3A1.
Watanabe Y et al.
Global Pediatric Health, 2019
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
Martell HJ et al.
Bmc Genomics, 2017
The genetic diversity of cystinuria in a UK population of patients.
Wong KA et al.
Bju International, 2015
Cystinuria: an inborn cause of urolithiasis.
Eggermann T et al.
Orphanet Journal of Rare Diseases, 2012
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
Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.
Harnevik L et al.
Human Mutation, 2001
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