Biochemical characterization of the GM2 gangliosidosis B1 variant

Biochemical characterization of the GM2 gangliosidosis B1 variant

The deficiency of the A isoenzyme of ß-hexosaminidase (Hex) produced by different mutations of the gene that codes for the alpha subunit (Tay-Sachs disease) has two variants with enzymological differences: the B variant consists of the absence of Hex A isoenzyme and the B1 variant produces an inacti...

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Bibliographic Details
Main Author:	J.C. Tutor
Format:	Article
Language:	English
Published:	Associação Brasileira de Divulgação Científica 2004-06-01
Series:	Brazilian Journal of Medical and Biological Research
Subjects:	GM2 gangliosidosis B1 variant ß-Hexosaminidase isoenzymes Activation energy Biochemical characterization
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004000600001

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