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Article

Tay-Sachs disease carrier screening: a model for prevention of genetic disease.

Genetic testing - 1 Jan 1998

Kaplan F

Abstract excerpt

Tay-Sachs disease (TSD) is an autosomal-recessive, progressive, and ultimately fatal neurodegenerative disorder. Within the last 30 years, the discovery of the enzymatic basis of the disease, namely deficiency of the enzyme hexosaminidase A, made possible both enzymatic diagnosis of TSD and heterozygote identification. In the last decade, the cloning of the HEXA gene and the identification of more than 80...

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Source

Identifiers

PMID: 10464605
DOI: 10.1089/gte.1998.2.271

Genes

HEXA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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