Article
Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.
American journal of human genetics - 1 Aug 1991
Yoshida K, Oshima A, Shimmoto M, Fukuhara Y, Sakuraba H, Yanagisawa N, Suzuki Y
Abstract excerpt
Molecular analysis of the human beta-galactosidase gene revealed six different mutations in 10 of 11 Japanese GM1-gangliosidosis patients. They were the only abnormalities in each allele examined in this study. A 165-nucleotide duplication (positions 1103-1267) was found in two infantile patients...
Topics
- Adolescent
- Adult
- Alleles
- Base Sequence
- Cells, Cultured
- Child
- Chronic Disease
- Cloning, Molecular
- G(M1) Ganglioside
- Gangliosidoses
- Genes
- Humans
- Infant
- Japan
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Polymerase Chain Reaction