Article
Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis.
The Clinical investigator - 1 Jul 1994
Bye S, Mallmann R, Duley J, Simmonds H A, Chen J, Tischfield J A, Sahota A
Abstract excerpt
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...
Topics
- Adenine
- Adenine Phosphoribosyltransferase
- Alleles
- Base Composition
- Base Sequence
- Child, Preschool
- Female
- Gene Deletion
- Homozygote
- Humans
- Molecular Sequence Data
- Mutation
- Pedigree
- Turkey
- Urinary Calculi