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

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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, f...

Topics

Adenine
Base Sequence
Blotting, Northern
Cells, Cultured
DNA
Exons
Fibroblasts
Guanine
Humans
Infant
Molecular Sequence Data
Mutation
Oligonucleotide Probes
Polymerase Chain Reaction
RNA Splicing
Restriction Mapping
Tay-Sachs Disease
Transcription, Genetic

Source

Open in PubMed

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PMID: 2139660

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2139660-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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