A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference35 articles.
1. The Metabolic Basis of Inherited Disease;O'Brien,1983
2. Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain.
3. 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.
4. Organization of the gene encoding the human beta-hexosaminidase alpha-chain.
5. Identification of an altered splice site in Ashkenazi Tay-Sachs disease
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