𝔖 Bobbio Scriptorium
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8-Hydroxyadenine as the intermediate in the oxidation of adenine to 2,8-dihydroxyadenine by xanthine oxidase

✍ Scribed by James B. Wyngaarden; John T. Dunn


Book ID
118841449
Publisher
Elsevier Science
Year
1957
Tongue
English
Weight
376 KB
Volume
70
Category
Article
ISSN
0003-9861

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Identification of a 7-basepair deletion
✍ Bye, S. ;Mallmann, R. ;Duley, J. ;Simmonds, H.A. ;Chen, J. ;Tischfield, J.A. ;Sa πŸ“‚ Article πŸ“… 1994 πŸ› Springer-Verlag 🌐 English βš– 413 KB

We describe a family of Turkish origin with adenine phosphoribosyltransferase (APRT) deficiency and renal stone disease. The proband had 2,8-dihydroxyadenine urolithiasis but an older sister, who was also deficient in enzyme activity, is so far asymptomatic. The proband was homozygous for a 7-bp del