Diagnosis and Molecular Characterization of Nonclassic Forms of Tay-Sachs Disease in Brazil
Abstract
Molecular analysis of five Brazilian families, including eight patients presenting with nonclassic Tay-Sachs disease, was performed to identify frequent causative mutations and their correlation with clinical course. Three patients were affected by the B1 subacute variant and were shown to carry the R178H mutation (the DN allele), which is also common among Portuguese patients. Two of them were compound heterozygotes, whereas the third presented...
Paper Details
Title
Diagnosis and Molecular Characterization of Nonclassic Forms of Tay-Sachs Disease in Brazil
Published Date
Jun 1, 2006
Journal
Volume
21
Issue
6
Pages
540 - 544
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