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Article

Molecular epidemiology of Tay-Sachs disease in Europe.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie - 1 Jan 1994

Poenaru L, Akli S

Abstract excerpt

The abnormalities in the gene coding for the beta-hexosaminidase alpha subunit were analysed from fibroblast's RNAs of 42 Tay-Sachs patients (seven with adult or late onset of Tay-Sachs disease and 35 with infantile Tay-Sachs disease). After first strand synthesis by random priming, PCR was used to amplify in two overlapping fragments (868 and 949 bp) the entire coding region. These amplified products were first...

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PMID: 7858168
DOI: 10.1016/0753-3322(94)90048-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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