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Article

Molecular basis of heat labile hexosaminidase B among Jews and Arabs.

Human mutation - 1 Jan 1997

Narkis G, Adam A, Jaber L, Pennybacker M, Proia R L, Navon R

Abstract excerpt

Genotyping individuals for Tay-Sachs disease (TSD) is mainly based on the heat lability of beta-hexosaminidase (Hex) A (alphabeta) and the heat stability of Hex B (betabeta). Mutations in the HEXB gene encoding the beta-subunits of Hex that result in heat-labile Hex B thus may lead to erroneous enzymatic genotyping regarding TSD. Utilizing single strand conformation polymorphism (SSCP) analysis for all 14 exons...

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Source

Identifiers

PMID: 9401004
DOI: 10.1002/(SICI)1098-1004(1997)10:6<424::AID-HUMU2>3.0.CO;2-D

Genes

HEXB

Provenance

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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