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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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
Idioma:Inglês
Publicado em: 2014
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados