Article
Molecular analysis of human acatalasemia. Identification of a splicing mutation.
Journal of molecular biology - 20 Jan 1990
Wen J K, Osumi T, Hashimoto T, Ogata M
Abstract excerpt
To search for the molecular defect of Japanese-type acatalasemia, we cloned the mutant catalase gene from a person with this deficiency. The nucleotide sequence of the mutant gene was determined for all exons, exon/intron junctions, and 5' and 3' flanking regions, and the findings were compared w...
Topics
- Acatalasia
- Animals
- Base Sequence
- Blotting, Southern
- Catalase
- Cell Line
- DNA
- Exons
- Genes
- Humans
- Japan
- Leukocytes
- Molecular Sequence Data
- Mutation
- RNA Splicing
- Reference Values
- Restriction Mapping
- Transfection