Article
A noveltau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies
1 Dec 2000
Abstract excerpt
Familial dementia with swollen achromatic neurons and corticobasal inclusion bodies is a neurodegenerative disease that resembles corticobasal degeneration. It is characterized by the presence of abundant neuronal and glial tau protein deposits. Here we describe a novel silent mutation in exon 10 of tau (N296N) in this familial dementia. By exon trapping, the mutation produced an increase in the splicing in of...
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