Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of neural transmission. Parkinson's disease and dementia section - 1 Jan 1993

Almqvist E, Lake S, Axelman K, Johansson K, Winblad B

Abstract excerpt

Screening for the APP 717 Val-->Ile mutation in the amyloid precursor protein (APP) gene in 34 Swedish families with familial Alzheimer's disease (FAD), 16 sporadic cases of Alzheimer's disease and five patients with Down's syndrome (DS) failed to identify further cases of the mutation. These results suggests that the mutation is rare among Swedish families with Alzheimer's disease. In addition, we summarize...

Topics

Aged
Aged, 80 and over
Alzheimer Disease
Amyloid beta-Protein Precursor
Chromosomes, Human, Pair 21
Down Syndrome
Genetic Testing
Humans
Isoleucine
Middle Aged
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Sweden

Valine

Source

Identifiers

PMID: 8117412
DOI: 10.1007/BF02261009

Genes

APP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8117412-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Screening of amyloid precursor protein gene mutation (APP 717 Val-->Ile) in Swedish families with Alzheimer's disease.PMID 8117412Read ↗

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

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

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

Amyloid precursor protein mutation causes Alzheimer's disease in a Swedish family.Semantic proximity Read ↗

Novel APP mutation V715A associated with presenile Alzheimer's disease in a German family.Semantic proximity Read ↗

Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases.Semantic proximity Read ↗

Screening for amyloid beta precursor protein codon 665, 670/671 and 717 mutations in Finnish patients with Alzheimer's 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 ↗

Low frequency of the APP 670/671 mutation in familial Alzheimer's disease in Sweden.Semantic proximity Read ↗

A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.