Article
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.
The Journal of clinical investigation - 1 Nov 1990
Neote K, McInnes B, Mahuran D J, Gravel R A
Abstract excerpt
Sandhoff disease is a recessively inherited lysosomal storage disease resulting from a deficiency of beta-hexosaminidase activity. The enzyme occurs in two major forms, beta-hexosaminidase A, composed of an alpha- and beta-subunit and beta-hexosaminidase B, composed of two beta-subunits. Both isozyme activities are deficient in Sandhoff disease, owing to mutations of the HEXB gene encoding the common...
Topics
- Base Sequence
- Blotting, Southern
- Cell Line
- Chromosome Deletion
- Cloning, Molecular
- Hexosaminidase B
- Humans
- Molecular Sequence Data
- Mutation
- Repetitive Sequences, Nucleic Acid
- Restriction Mapping