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Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT)

โœ Scribed by W. Doppler; Monica Hirsch-Kauffmann; F. Schabel; M. Schweiger

Publisher
Springer
Year
1981
Tongue
English
Weight
665 KB
Volume
57
Category
Article
ISSN
0340-6717

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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