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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 muta...

Topics

Base Sequence
Cells, Cultured
Exons
Female
Fibroblasts
Hexosaminidase A
Humans
Kinetics
Male
Molecular Sequence Data
Mutation
Polymorphism, Single-Stranded Conformational

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tay-Sachs Disease

beta-N-Acetylhexosaminidases

Source

Identifiers

PMID: 8581357
DOI: 10.1006/bmme.1995.1018

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8581357-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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