Article
Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.
Journal of medical genetics - 1 Mar 1991
Landels E C, Ellis I H, Fensom A H, Green P M, Bobrow M
Abstract excerpt
Tay-Sachs disease is a lethal neurodegenerative disorder caused by deficiency of the lysosomal enzyme beta-hexosaminidase A and inherited in an autosomal recessive fashion; carriers of the disease are 10 times more frequent in the Ashkenazi Jewish community than in the general population. Over 90% of North American Ashkenazi carriers tested have been shown to have either a splice site mutation at the boundary of...
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