Article
An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease.
Human mutation - 1 Jan 1992
Shore S, Tomczak J, Grebner E E, Myerowitz R
Abstract excerpt
The Ashkenazi Jewish population is enriched for carriers of a fatal form of Tay-Sachs disease, a recessive inherited disorder caused by mutations in the alpha-chain of the lysosomal enzyme beta-hexosaminidase A. Approximately 20% of the Ashkenazi carriers harbor a splice junction defect while abo...
Topics
- Alleles
- Base Sequence
- Cloning, Molecular
- DNA
- DNA Mutational Analysis
- Genotype
- Humans
- Jews
- Molecular Sequence Data
- Point Mutation
- Tay-Sachs Disease