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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6689677/
https://www.ncbi.nlm.nih.gov/pubmed/31402617
http://dx.doi.org/10.1002/acn3.50844

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6689677/
https://www.ncbi.nlm.nih.gov/pubmed/31402617
http://dx.doi.org/10.1002/acn3.50844

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