Associated Papers
Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis.
Wang X et al.
Kidney International Reports, 2025
40814648 (PubMed )
Supplement: mmc1.pdf
Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
Ajayi JA et al.
Current Research in Physiology, 2025
Genetic and clinical analysis of Chinese pediatric patients with cystinuria.
Zhan R et al.
Urolithiasis, 2022
Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9.
Li C et al.
Frontiers in Genetics, 2020
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
Clinical and genetic analysis of patients with cystinuria in the United Kingdom.
Rhodes HL et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2015
The genetic diversity of cystinuria in a UK population of patients.
Wong KA et al.
Bju International, 2015
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
Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria.
Yuen YP et al.
Kidney International, 2006
Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.
Puffenberger EG
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 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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