15 results on '"Tay-Sachs Disease genetics"'
Search Results
2. Tay-Sachs disease: from clinical description to molecular defect.
3. Molecular epidemiology of Tay-Sachs disease.
4. The beta-hexosaminidase story in Toronto: from enzyme structure to gene mutation.
5. Tay-Sachs disease and preimplantation genetic diagnosis.
6. Molecular genetics of the beta-hexosaminidase isoenzymes: an introduction.
7. Discovery of beta-hexosaminidase A deficiency in Tay-Sachs disease.
8. Early epidemiologic studies of Tay-Sachs disease.
9. Naturally occurring mutations in GM2 gangliosidosis: a compendium.
10. The GM2-gangliosidoses and the elucidation of the beta-hexosaminidase system.
11. The search for the genetic lesion in Ashkenazi Jews with Classic Tay-Sachs disease.
12. Cloning the beta-hexosaminidase genes.
13. Late-onset GM2 gangliosidosis and other hexosaminidase mutations among Jews.
14. Targeting the hexosaminidase genes: mouse models of the GM2 gangliosidoses.
15. Recognition and delineation of beta-hexosaminidase alpha-chain variants: a historical and personal perspective.
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