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Article

[Affected siblings with Alzheimer's disease had missense mutation of codon 717 in amyloid precursor protein gene].

Nihon Ronen Igakkai zasshi. Japanese journal of geriatrics - 1 Feb 1992

Katsuya T, Miki T, Tanabe H, Takeda M, Hosokawa K, Hayashi H, Hashimoto S, Nishimura T, Ogihara T

Abstract excerpt

Using reverse genetic techniques, the gene responsible for familial Alzheimer's disease (FAD) is one of the clues to identify the pathogenesis of Alzheimer's disease (AD). Recently a missense mutation in the APP (amyloid precursor protein) gene (generally this mutation was called APP717) was detected in 2 Caucasian AD families and the same mutation was found in 3 Japanese AD families. We experienced brother's...

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Source

Identifiers

PMID: 1349930
DOI: 10.3143/geriatrics.29.129

Genes

APP

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

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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[Affected siblings with Alzheimer's disease had missense mutation of codon 717 in amyloid precursor protein gene].PMID 1349930Read ↗

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[Recent advances in Alzheimer's disease research--amyloid precursor protein trafficking, processing, and mutations in Alzheimer's disease linked genes].Semantic proximity Read ↗

[Identification of a mutation in an amyloid gene is a progress in the research of Alzheimer's disease].Semantic proximity Read ↗

Phenotypical difference of amyloid precursor protein (APP) V717L mutation in Japanese family.Semantic proximity Read ↗

The Report of p.Val717Phe Mutation in the APP Gene in a Hungarian Family With Alzheimer Disease: A Phenomenological Study.Semantic proximity Read ↗

[Mutation analysis of amyloid precursor protein in early-onset familial Alzheimer's disease].Semantic proximity Read ↗

Familial Alzheimer's disease. A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine-->glycine).Semantic proximity Read ↗

[A case report of early-onset Alzheimer's disease with multiple psychotic symptoms, finally diagnosed as APPV717I mutation by genetic testing].Semantic proximity Read ↗

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