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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 relatively minor abnormality results in complete failure to generate stable mRNA. The four-base insertion was introduced...

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PMID: 1830584

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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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