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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Navon, Ruth, Padeh, Baruch
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1971
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1799154/
https://ncbi.nlm.nih.gov/pubmed/5096878
Tagiau: Ychwanegu Tag
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