Tay-Sachs disease (TSD) is an inherited neurodegenerative ganglioside storage disorder caused by deficiency of the hexosaminidase A enzyme. A deletion allele (FCD) at the HEXA locus has attained high frequency in the French Canadian population. The distribution of affected probands shows a likely ce
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Allele-specific amplification of genomic DNA for detection of deletion mutations: Identification of a French-Canadian tay-sachs mutation
โ Scribed by F. Kaplan; B. Boulay; J. Bayleran; P. Hechtman
- Book ID
- 112630968
- Publisher
- Springer
- Year
- 1991
- Tongue
- English
- Weight
- 937 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0141-8955
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