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Adenine phosphoribosyl transferase polymorphism in baboons

โœ Scribed by John L. VandeBerg; Mary Jo Aivaliotis

Publisher
Springer
Year
1992
Tongue
English
Weight
351 KB
Volume
30
Category
Article
ISSN
0006-2928

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๐Ÿ“œ SIMILAR VOLUMES

Identification of a 7-basepair deletion
Identification of a 7-basepair deletion in the adenine phosphoribosyl-transferase gene as a cause of 2,8-dihydroxyadenine urolithiasis
โœ Bye, S. ;Mallmann, R. ;Duley, J. ;Simmonds, H.A. ;Chen, J. ;Tischfield, J.A. ;Sa ๐Ÿ“‚ Article ๐Ÿ“… 1994 ๐Ÿ› Springer-Verlag ๐ŸŒ English โš– 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