Article
Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.
American journal of human genetics - 1 Oct 1993
Boustany R M, Qian W H, Suzuki K
Abstract excerpt
We describe four new mutations in the beta-galactosidase gene. These are the first mutations causing infantile and juvenile GM1-gangliosidosis to be described in American patients. Cell lines from two patients with juvenile and from six patients with infantile GM1-gangliosidosis were analyzed. No...
Topics
- Animals
- Base Sequence
- Blotting, Northern
- Catalysis
- Cell Line
- Child, Preschool
- DNA
- DNA Mutational Analysis
- Female
- Fibroblasts
- Gangliosidosis, GM1
- Genotype
- Humans
- Infant
- Leukocytes
- Male
- Molecular Sequence Data
- Mutation