Expression of the beta-hexosaminidase alpha subunit gene with the four-base insertion of infantile Jewish Tay-Sachs disease.

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Article

Expression of the beta-hexosaminidase alpha subunit gene with the four-base insertion of infantile Jewish Tay-Sachs disease.

The Journal of biological chemistry - 5 Aug 1991

Nishimoto J, Tanaka A, Nanba E, Suzuki K

Abstract excerpt

One of the two mutations responsible for the classical infantile Jewish form of Tay-Sachs disease is a four-base insertion in exon 11 of the beta-hexosaminidase alpha subunit gene. The gene is known to be transcribed normally, but the mRNA is essentially undetectable. It is not clear why such a r...

Topics

Alleles
Base Sequence
Blotting, Northern
Catalysis
Cell Line
DNA
Humans
Molecular Sequence Data
Mutation
Protein Biosynthesis
RNA Splicing
RNA, Messenger
Tay-Sachs Disease
Transcription, Genetic
Transfection
beta-N-Acetylhexosaminidases

Source

Open in PubMed

Identifiers

PMID: 1830584

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1830584-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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