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Tay-Sachs disease heterozygote detection: use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates.

An assay for measuring hexosaminidase A in serum and leucocytes is described in which a centrifugal analyser is used for automation of the enzyme assays after manual heat inactivation. The assay was used in a screening programme to identify heterozygotes for Tay-Sachs disease in Ashkenazi Jewish sub...

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Библиографические подробности
Главные авторы: Landels, E C, Ellis, I H, Bobrow, M, Fensom, A H
Формат: Artigo
Язык:Inglês
Опубликовано: 1991
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016777/
https://ncbi.nlm.nih.gov/pubmed/1825851
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