Article
Biochemical and molecular aspects of late-onset GM2-gangliosidosis: B1 variant as a prototype.
Developmental neuroscience - 1 Jan 1991
Suzuki K, Vanier M T
Abstract excerpt
Clinical phenotypes of GM2-gangliosidosis are complex. In the past 5 years it has become possible to dissect out the phenotypic complexity on the basis of abnormalities on the DNA level. Available data on the 18 disease-causing mutations so far identified in the beta-hexosaminidase alpha-gene all...
Topics
- Alleles
- Binding Sites
- Catalysis
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- G(M2) Ganglioside
- Gangliosidoses
- Genes
- Genotype
- Hexosaminidase A
- Humans
- Infant
- Male
- Models, Molecular
- Phenotype
- Protein Conformation