Article
Detection of the three common mutations of adeninephosphoribosyltransferase deficiency among Japanese.
Clinica chimica acta; international journal of clinical chemistry - 31 Jan 1995
Higashimoto H, Ouchi A, Kawaguchi R
Abstract excerpt
We analyzed DNA from six Japanese patients with adenine phosphoribosyltransferase (APRT) deficiency who developed 2,8-dihydroxyadenine (DHA) urolithiasis. These six patients were selected for DNA analysis since they were expected to possess allele(s) with mutations other than two known abnormalit...
Topics
- Adenine Phosphoribosyltransferase
- Base Sequence
- Cloning, Molecular
- DNA
- DNA Mutational Analysis
- Exons
- Genotype
- Germ-Line Mutation
- Humans
- Japan
- Molecular Sequence Data
- Nucleic Acid Hybridization
- Polymerase Chain Reaction