Associated Papers
A Case of Cystinuria With Compound Heterozygous Mutations Both in SLC3A1 and SLC7A9 Genes.
Suh SH et al.
Electrolyte & Blood Pressure : E & Bp, 2025
In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria.
Mahdavi M et al.
Molecular Biology Reports, 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3
Clinical and genetic characterization of Chinese pediatric cystine stone patients.
Shen L et al.
Journal of Pediatric Urology, 2017
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
Martell HJ et al.
Bmc Genomics, 2017
A Novel Mutation in SLC7A9 Gene in Cystinuria.
Fazaeli S et al.
Iranian Journal of Kidney Diseases, 2017
Codon-level co-occurrences of germline variants and somatic mutations in cancer are rare but often lead to incorrect variant annotation and underestimated impact prediction.
Koire A et al.
Plos One, 2017
28350864 (PubMed )
Supplement: pone.0174766.s004.xlsx › Sheet1
Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria.
Koulivand L et al.
Urolithiasis, 2015
Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.
Barbosa M et al.
Clinical Genetics, 2012
Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.
Lee EH et al.
Journal of Korean Medical Science, 2010
Evidence for association of SLC7A9 gene haplotypes with cystinuria manifestation in SLC7A9 mutation carriers.
Chatzikyriakidou A et al.
Urological Research, 2006
A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.
Shigeta Y et al.
Kidney International, 2006
Mutation analysis of SLC7A9 in cystinuria patients in Sweden.
Harnevik L et al.
Genetic Testing, 2003
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