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Article

GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.

Biochemical and molecular medicine - 1 Apr 1995

Peleg L, Meltzer F, Karpati M, Goldman B

Abstract excerpt

The biochemical properties of hexosaminidase A (HexA) and the coding sequence of the alpha-subunit were examined in a patient of Syrian ancestry with the B1 form of Tay-Sachs disease (TSD). The biochemical characteristics of the variant HexA suggest that both active sites are affected by the mutation(s). Kinetic studies with the beta-subunit specific substrate, 4-methylumbelliferyl-beta-D-N-acetylglucosamine...

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Identifiers

PMID: 8581357
DOI: 10.1006/bmme.1995.1018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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