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Article

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.

The Journal of biological chemistry - 5 May 1990

Akli S, Chelly J, Mezard C, Gandy S, Kahn A, Poenaru L

Abstract excerpt

Tay-Sachs disease is an autosomal recessive genetic disease caused by a deficiency in beta-hexosaminidase A. We have characterized a new mutation in a Tunisian patient displaying a late infantile form of Tay-Sachs disease. Northern blot analysis of patient's fibroblast total RNAs shows a broad, fast migrating band in the region of the normal beta-hexosaminidase alpha transcripts. The mRNA coding for...

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PMID: 2139660

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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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A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.PMID 2139660Read ↗

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