A novel mutation in the predicted TMIII domain of the PSEN2 gene in an Italian pedigree with atypical Alzheimer's disease.

作者: Paola Piscopo , Giuseppina Talarico , Alessio Crestini , Marina Gasparini , Lorenzo Malvezzi-Campeggi

DOI: 10.3233/JAD-2010-1369

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摘要: Alzheimer's disease (AD) is characterized by accumulation of toxic amyloid-β (Aβ) in the brain, with neuronal death, and an associated increased Aβ 42/40 ratio. Several mutations in …

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