Article
Mutational basis of adenine phosphoribosyltransferase deficiency.
Advances in experimental medicine and biology - 1 Jan 1991
Sahota A, Chen J, Stambrook P J, Tischfield J A
Abstract excerpt
The mutational basis of APRT deficiency was studied in non-Japanese and Japanese patients. Fifteen different mutations have been identified altogether. Of these 4 were common, 6 were located in exon 3, and two at the exon 4-intron 4 junction. The common mutations were a missense mutation in exon...
Topics
- Adenine Phosphoribosyltransferase
- Alleles
- Amino Acid Sequence
- Base Sequence
- Heterozygote
- Homozygote
- Humans
- Mutation