Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease
Author:
Publisher
Ubiquity Press, Ltd.
Subject
General Earth and Planetary Sciences,General Environmental Science
Reference56 articles.
1. THE CELL CHANGES IN AMAUROTIC FAMILY IDIOCY;J Exp Med,1910
2. Identification of Tay-Sachs disease carriers by acrylamide gel electrophoresis;Clin Chim Acta,1970
3. Identification of an altered splice site in Ashkenazi Tay-Sachs disease;Nature,1988
4. Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease;J Biol Chem,1986
5. Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease;Am J Hum Genet,1973
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