Novel P397S MAPT variant associated with late onset and slow progressive frontotemporal dementia

Mutations in the MAPT gene cause frontotemporal dementia with tau deposits. We report the novel p.P397S MAPT variant in eight subjects from five apparently nonrelated families suffering from frontotemporal dementia with autosomal dominant pattern of inheritance. In silico analysis reported conflicti...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Borrego‐Écija, Sergi, Antonell, Anna, Puig‐Butillé, Joan Anton, Pericot, Inmaculada, Prat‐Bravo, Carme, Abellan‐Vidal, Maria Teresa, Mallada, Javier, Olives, Jaume, Falgàs, Neus, Oliva, Rafael, Lladó, Albert, Sánchez‐Valle, Raquel
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Brief Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6689677/
https://ncbi.nlm.nih.gov/pubmed/31402617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50844
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