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Prenatal Diagnosis of Tay-Sachs Genotypes

Hexosaminidase activity was determined in cultured and uncultured amniotic fluid cells taken from seven pregnant women who had previously given birth to infants with Tay-Sachs disease. Complete deficiency of hexosaminidase A was found in one case, indicating a Tay-Sachs fetus. The diagnosis was conf...

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Bibliographic Details
Main Authors: Navon, Ruth, Padeh, Baruch
Format: Artigo
Language:Inglês
Published: 1971
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1799154/
https://ncbi.nlm.nih.gov/pubmed/5096878
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