Phenotypical difference of Amyloid Precursor Protein (APP) V717L mutation in Japanese family

BACKGROUND: Alzheimer’s disease (AD) is the most common form of dementia. Mutations in genes such as those encoding amyloid precursor protein (APP), presenilin 1 and presenilin 2, are responsible for early-onset familial AD. CASE PRESENTATION: In this study, we report a 275341 G > C (Val717Leu) m...

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Main Authors: Abe, Masao, Sonobe, Naomi, Fukuhara, Ryuji, Mori, Yoko, Ochi, Shinichiro, Matsumoto, Teruhisa, Mori, Takaaki, Tanimukai, Satoshi, Ueno, Shu-ichi
格式: Artigo
語言:Inglês
出版: BioMed Central 2012
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Case Report
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3482594/
https://ncbi.nlm.nih.gov/pubmed/22702962
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-12-38
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