The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program
CONTEXT: Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier scr...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Associação Paulista de Medicina
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| Series: | São Paulo Medical Journal |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802001000400007&lng=en&tlng=en |