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Article

The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.

American journal of human genetics - 1 Nov 1992

McDowell G A, Mules E H, Fabacher P, Shapira E, Blitzer M G

Abstract excerpt

A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations. Eleven of 12 infantile TSD alleles examined in six families had the beta-hexosaminidase A (Hex A) alpha-subunit exon 11 insertion mutation that is present in approximately 70% of Ashkenazi Jewish TSD heterozygotes. The mutation...

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Identifiers

PMID: 1307230
PMCID: PMC1682822

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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