Article
Detection of a common mutation of the catalase gene in Japanese acatalasemic patients.
Human genetics - 1 Mar 1992
Kishimoto Y, Murakami Y, Hayashi K, Takahara S, Sugimura T, Sekiya T
Abstract excerpt
Acatalasemia was one of the earliest described genetic enzyme defects. In 1990, a causal point mutation (a splicing mutation) was first reported in a Japanese patient with acatalasemia. In the present study, the polymerase chain reaction and single-strand conformation polymorphism analysis were u...
Topics
- Acatalasia
- Alleles
- Base Sequence
- Catalase
- Cells, Cultured
- DNA
- Exons
- Genes
- Humans
- Japan
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Polymerase Chain Reaction
- Reference Values
- T-Lymphocytes