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• W2146808983 abstract "Adenine phosphoribosyltransferase (APRT) deficiency, a rare inborn error inherited as an autosomic recessive trait, presents with 2,8-dihydroxyadenine (2,8-DHA) crystal nephropathy. We describe clinical, biochemical and molecular findings in a renal transplant recipient with renal failure, 2,8-DHA stones and no measurable erythrocyte APRT activity. Homozygous C > G substitution at -3 in the splicing site of exon 2 (IVS2 -3 c > g) was found in the APRT gene. The patient's asymptomatic brother was heterozygous for such mutation, and his APRT activity was 23% of controls. A splicing alteration leading to incorrect gene transcription and virtually absent APRT activity is seemingly associated with the newly identified mutation." @default.
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• W2146808983 date "2010-06-02" @default.
• W2146808983 modified "2023-09-27" @default.
• W2146808983 title "Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent renal stone disease in kidney transplantation" @default.
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• W2146808983 doi "https://doi.org/10.1093/ndtplus/sfq096" @default.
• W2146808983 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4421695" @default.
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