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Article

A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant).

American journal of human genetics - 1 Sept 1990

Tanaka A, Punnett H H, Suzuki K

Abstract excerpt

The abnormality in the gene coding for the beta-hexosaminidase alpha subunit was analyzed in a non-Jewish patient with clinically typical infantile Tay-Sachs disease. The family was Catholic, and the father and the mother were of Irish and German descent, respectively. A hitherto undescribed single nucleotide transversion was found within exon 11 (G1260----C; Trp420----Cys). The coding sequence was otherwise...

Topics

Base Sequence
Exons
Female
Genes
Heterozygote
Humans
Infant
Male
Molecular Sequence Data
Mutation
Pedigree
Tay-Sachs Disease

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beta-N-Acetylhexosaminidases

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Identifiers

PMID: 2144098
PMCID: PMC1683872

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2144098-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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