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Article

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

Nihon rinsho. Japanese journal of clinical medicine - 1 Sept 1993

Tanaka H, Naruse S, Miyatake T, Tsuji S

Abstract excerpt

To date, eleven independent early onset familial Alzheimer's disease (EOFAD) pedigrees with the 717Val-->Ile mutation of amyloid precursor protein (APP) gene have been identified. Interestingly, five pedigrees have been of Japanese origin. The apparent ethnic prediction of this mutation raises the possibility that there is a founder effect in Japan. If the hypothesis holds true, we can expect the presence of...

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Source

Identifiers

PMID: 8411727

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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[Absence of linkage disequilibrium at amyloid precursor protein gene locus in Japanese familial Alzheimer's disease with 717Val-->Ile mutation].PMID 8411727Read ↗

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

[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 ↗

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 ↗

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

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

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

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

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