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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-subun...

Topics

Base Sequence
Ethnicity
Exons
Female
Heterozygote
Hexosaminidase A
Humans
Introns
Louisiana
Male
Molecular Sequence Data
Mutation
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Tay-Sachs Disease

beta-N-Acetylhexosaminidases

Source

Open in PubMed Open full text

Identifiers

PMID: 1307230
PMCID: PMC1682822

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1307230-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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