Article
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
American journal of human genetics - 1 Jan 1991
Mimori A, Hidaka Y, Wu V C, Tarlé S A, Kamatani N, Kelley W N, Pallela T D
Abstract excerpt
Adenine phosphoribosyltransferase (APRT) deficiency is a genetic disorder which causes 2,8-dihydroxy-adenine urolithiasis. The estimated incidence of heterozygosity in Caucasian and Japanese populations is 1%. Mutant alleles responsible for the disease have been classified as APRT*Q0 (type I) and APRT* (type II). In our previous study, we demonstrated in APRT*J a single common base change which accounts for 70%...
Topics
- Adenine Phosphoribosyltransferase
- Alleles
- Amino Acid Sequence
- Base Sequence
- Blotting, Southern
- Cell Line
- DNA Probes
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction