Associated Papers
Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.
Leow EH et al.
International Urology and Nephrology, 2025
Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.
Hashiba T et al.
Journal of Diabetes Investigation, 2025
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.
Jung J et al.
Clinical Genetics, 2023
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
Jung J et al.
Bmc Medical Genomics, 2021
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
Runolfsdottir HL et al.
European Journal of Human Genetics : Ejhg, 2021
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
32901917 (PubMed )
Supplement: CGE-98-562-s003.xlsx › Supplementary_2
A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.
Nozue H et al.
Acta Paediatrica (oslo, Norway : 1992), 2011
Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.
Taniguchi A et al.
Nucleosides, Nucleotides & Nucleic Acids, 2004
[Adenine phosphoribosyltransferase (APRT) deficiency].
Taniguchi A
Ryoikibetsu Shokogun Shirizu, 1998
Mutations to nonsense codons in human genetic disease: implications for gene therapy by nonsense suppressor tRNAs.
Atkinson J et al.
Nucleic Acids Research, 1994
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