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...

Full description

Saved in:
Bibliographic Details
Main Authors: 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
Format: Artigo
Language:Inglês
Published: Elsevier 2014
Subjects:
Genetic Report Abstract
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4099516/
https://ncbi.nlm.nih.gov/pubmed/24880964
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2014.04.026
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items