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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2014
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Article
On-line přístup: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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