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Article

A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease.

Neuroscience letters - 27 Oct 1995

Brooks W S, Martins R N, De Voecht J, Nicholson G A, Schofield P R, Kwok J B, Fisher C, Yeung L U, Van Broeckhoven C

Abstract excerpt

DNA from the probands of seven Australian families with hereditary Alzheimer's disease was screened for the presence of known mutations in the amyloid precursor protein (APP) gene on chromosome 21 using single stranded conformational polymorphism (SSCP) analysis [14]. One subject was found to have a mutation causing a Val-->Ile substitution at position 717. This was confirmed by restriction enzyme digestion and...

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Source

Identifiers

PMID: 8577393
DOI: 10.1016/0304-3940(95)12046-7

Genes

APP
APOE

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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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A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease.PMID 8577393Read ↗

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

APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease.Semantic proximity Read ↗

Clinical comparison of Alzheimer's disease in pedigrees with the codon 717 Val-->Ile mutation in the amyloid precursor protein gene.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 ↗

Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene.Semantic proximity Read ↗

Testing for mutations in exon 17 of the beta-amyloid precursor protein gene in Finnish Alzheimer patients and normal subjects.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 ↗

Clinical features of early onset, familial Alzheimer's disease linked to chromosome 14.Semantic proximity Read ↗

Pathological changes in the brain of a patient with familial Alzheimer's disease having a missense mutation at codon 717 in the amyloid precursor protein gene.Semantic proximity Read ↗

Amyloid precursor protein mutation at codon 713 (Ala-->Val) does not cause schizophrenia: non-pathogenic variant found at codon 705 (silent).Semantic proximity Read ↗

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