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  • Title: A mutant adenine phosphoribosyltransferase in 2,8-dihydroxyadenine urolithiasis.
    Author: Nishida Y, Hirano S, Miyamoto T.
    Journal: Arch Intern Med; 1986 Oct; 146(10):2068-70. PubMed ID: 3767554.
    Abstract:
    In one case of 2,8-dihydroxyadenine urolithiasis, reduced adenine phosphoribosyltransferase activity was found. The patient's enzyme had normal affinity for adenine but reduced affinity for substrate phosphoribosyl-pyrophosphate. It was much more stable at 60 degrees C than control. It seems that erythrocyte adenine phosphoribosyltransferase obtained from the patient may be a variant enzyme.
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