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[Mutations of amyloid precursor protein in early-onset familial Alzheimer's disease].

Nihon rinsho. Japanese journal of clinical medicine - 1 Sept 1992

Naruse S, Tsuji S, Miyatake T

Abstract excerpt

Genetic linkage studies of familial Alzheimer's disease (FAD) have suggested that some form of early-onset FAD is linked to proximal long arm of chromosome 21. It has been also suggested that some form of late-onset FAD is linked to long arm of chromosome 19. Goate et al have identified a mis-sense mutation (Val to Ile) in exon 17 of the amyloid precursor protein (APP) gene in 2 of 16 early-onset FAD families,...

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Source

Identifiers

PMID: 1434023

Genes

APP

Provenance

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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[Mutations of amyloid precursor protein in early-onset familial Alzheimer's disease].PMID 1434023Read ↗

[Screening for mutations of the precursor of beta-amyloid protein in early forms of Alzheimer disease. French Study Group of Alzheimer Disease].Semantic proximity Read ↗

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

Mis-sense mutation Val→Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's diseaseSemantic proximity Read ↗

No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.Semantic proximity Read ↗

Screening for the beta-amyloid precursor protein mutation (APP717: Val----Ile) in extended pedigrees with early onset Alzheimer's disease.Semantic proximity Read ↗

[Absence of linkage disequilibrium at amyloid precursor protein gene locus in Japanese familial Alzheimer's disease with 717Val-->Ile mutation].Semantic proximity Read ↗

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

Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene.Semantic proximity Read ↗

The 717Val----Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups.Semantic proximity Read ↗

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.Semantic proximity Read ↗

Screening for mutations at codon 717 of the amyloid precursor protein gene in Alzheimer's disease.Semantic proximity Read ↗

Screening of amyloid precursor protein gene mutation (APP 717 Val-->Ile) in Swedish families with Alzheimer's disease.Semantic proximity Read ↗

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