Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease()

Early-onset Alzheimer's disease (EOAD) represents 1%–2% of the Alzheimer's disease (AD) cases, and it is generally characterized by a positive family history and a rapidly progressive symptomatology. Rare coding and fully penetrant variants in amyloid precursor protein (APP), presenilin 1...

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Detalles Bibliográficos
Autores principales: Sassi, Celeste, Guerreiro, Rita, Gibbs, Raphael, Ding, Jinhui, Lupton, Michelle K., Troakes, Claire, Lunnon, Katie, Al-Sarraj, Safa, Brown, Kristelle S., Medway, Chirstopher, Lord, Jenny, Turton, James, Mann, David, Snowden, Julie, Neary, David, Harris, Jeniffer, Bras, Jose, Morgan, Kevin, Powell, John F., Singleton, Andrew, Hardy, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Genetic Report Abstract
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099516/
https://www.ncbi.nlm.nih.gov/pubmed/24880964
http://dx.doi.org/10.1016/j.neurobiolaging.2014.04.026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099516/
https://www.ncbi.nlm.nih.gov/pubmed/24880964
http://dx.doi.org/10.1016/j.neurobiolaging.2014.04.026

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