Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration

In order to determine the frequency of microtubule associated protein tau gene (MAPT) mutations and rare variants in CBD, we performed a systematic sequence analysis of MAPT coding and 3′ untranslated region (3′UTR) in a large cohort of autopsy-confirmed CBD patients (N=109). This identified a novel...

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Autores principales: Kouri, Naomi, Carlomagno, Yari, Baker, Matthew, Liesinger, Amanda M., Caselli, Richard J., Wszolek, Zbigniew K., Petrucelli, Leonard, Boeve, Bradley F., Parisi, Joseph E., Josephs, Keith A., Uitti, Ryan J., Ross, Owen A., Graff-Radford, Neill R., DeTure, Michael A., Dickson, Dennis W., Rademakers, Rosa
Formato: Artigo
Lenguaje:Inglês
Publicado: 2014
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3943649/
https://ncbi.nlm.nih.gov/pubmed/24121548
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-013-1193-7
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