Article
A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease.
American journal of human genetics - 1 Oct 1992
Ainsworth P J, Coulter-Mackie M B
Abstract excerpt
The B1 variant form of Tay-Sachs disease is enzymologically unique in that the causative mutation(s) appear to affect the active site in the alpha subunit of beta-hexosaminidase A without altering its ability to associate with the beta subunit. Most previously reported B1 variant mutations were f...
Topics
- Animals
- Base Sequence
- Cells, Cultured
- DNA
- Exons
- Fibroblasts
- Gene Expression
- Genetic Variation
- Humans
- Lymphocytes
- Macromolecular Substances
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Polymerase Chain Reaction
- RNA, Messenger
- Restriction Mapping
- Tay-Sachs Disease