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Article

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.

The Journal of clinical investigation - 1 Nov 1990

Neote K, McInnes B, Mahuran D J, Gravel R A

Abstract excerpt

Sandhoff disease is a recessively inherited lysosomal storage disease resulting from a deficiency of beta-hexosaminidase activity. The enzyme occurs in two major forms, beta-hexosaminidase A, composed of an alpha- and beta-subunit and beta-hexosaminidase B, composed of two beta-subunits. Both isozyme activities are deficient in Sandhoff disease, owing to mutations of the HEXB gene encoding the common...

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Source

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Identifiers

PMID: 2147027
DOI: 10.1172/JCI114871
PMCID: PMC296899

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.

Related research

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Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.PMID 2147027Read ↗

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.Semantic proximity Read ↗

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[Lysosome disease--Sandhoff disease].Semantic proximity Read ↗

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Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.Semantic proximity Read ↗

A polymerase chain reaction-based genotyping assay for detecting a novel Sandhoff disease-causing mutation.Semantic proximity Read ↗

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