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Article

Phenotypical difference of amyloid precursor protein (APP) V717L mutation in Japanese family.

BMC neurology - 15 Jun 2012

Abe Masao, Sonobe Naomi, Fukuhara Ryuji, Mori Yoko, Ochi Shinichiro, Matsumoto Teruhisa, Mori Takaaki, Tanimukai Satoshi, Ueno Shu-ichi

Abstract excerpt

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) mutation in the APP gene in a Japanese family with early onset AD by genetic screening. This mutation has previously...

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Source

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Identifiers

PMID: 22702962
DOI: 10.1186/1471-2377-12-38
PMCID: PMC3482594

Genes

APP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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