Article
Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: mutational hot spots at the intron 4 splice donor site and at codon 87.
Mutation research - 1 Jun 1993
Chen J, Sahota A, Martin G F, Hakoda M, Kamatani N, Stambrook P J, Tischfield J A
Abstract excerpt
We have characterized 18 germline and 10 in vivo somatic mutations in the human adenine phosphoribosyltransferase (APRT) gene. Both germline and in vivo somatic mutations were clustered at the intron 4 splice donor site and at codon 87. In vitro somatic mutations in human APRT do not appear to sh...
Topics
- Adenine Phosphoribosyltransferase
- Animals
- Base Sequence
- CHO Cells
- Codon
- Cricetinae
- Genome, Human
- Humans
- Introns
- Molecular Sequence Data
- Mutation