Molecular epidemiology of Tay-Sachs disease in Europe.

doi:10.1016/0753-3322(94)90048-5

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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...

Topics

Adult
Base Sequence
Electrophoresis, Polyacrylamide Gel
Europe
Genotype
Humans
Infant
Mutation
Polymerase Chain Reaction
Tay-Sachs Disease

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