The molecular pathomechanism of tay-sachs disease
✍ Scribed by József Szeberényi
- Publisher
- The American Society for Biochemistry and Molecular Biology
- Year
- 2002
- Tongue
- English
- Weight
- 118 KB
- Volume
- 30
- Category
- Article
- ISSN
- 1470-8175
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## Abstract ChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable v
Tay-Sachs disease is an autosomal recessive disorder affecting the central nervous system. The disorder results from mutations in the gene encoding the ~-subunit of Ä-hexosaminidase A, a lysosomal enzyme composed of ~ and Ä polypeptides. Seventy-eight mutations in the Hex A gene have been described