Characterization of two Turkish β-hexosaminidase mutations causing Tay–Sachs disease
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health
Reference26 articles.
1. Recent advances in the biochemistry of glycosphingolipid metabolism;Kolter;Biochem Soc Trans,1999
2. Isolation of cDNA clones coding for the α-subunit of human β-hexosaminidase: extensive homology between the α- and β-subunits and studies on Tay–Sachs disease;Korneluk;J Biol Chem,1986
3. Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta-chain;Myerowitz;Proc Natl Acad Sci USA,1985
4. The GM2 gangliosidoses;Gravel,1995
5. Synthesis and assembly of a catalytically active lysosomal enzyme, beta-hexosaminidase B, in a cell-free system;Sonderfeld-Fresko;J Biol Chem,1988
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