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Article

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

American journal of human genetics - 1 May 1997

Akerman B R, Natowicz M R, Kaback M M, Loyer M, Campeau E, Gravel R A

Abstract excerpt

We have evaluated the feasibility of using PCR-based mutation screening for non-Jewish enzyme-defined carriers identified through Tay-Sachs disease-prevention programs. Although Tay-Sachs mutations are rare in the general population, non-Jewish individuals may be screened as spouses of Jewish carriers or as relatives of probands. In order to define a panel of alleles that might account for the majority of...

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Identifiers

PMID: 9150157
PMCID: PMC1712448

Genes

HEXA

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Source receipt: pubmed, retrieved 7 Sept 2026.

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