Article
Molecular genetics of chromosome 17 tauopathies.
Annals of the New York Academy of Sciences - 1 Jan 2000
Hutton M
Abstract excerpt
The identification of mutations in the gene encoding the microtubule associated protein tau in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) demonstrated that tau dysfunction can lead to neurodegeneration. At least 11 missense mutations and 1 deletion mutation (delta K280) have been identified in exons 9-13 that encode the microtubule binding domains of tau. In addition, five...
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