Discover Community Create You

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

APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease.

American journal of human genetics - 1 Sept 1991

Schellenberg G D, Anderson L, O'dahl S, Wisjman E M, Sadovnick A D, Ball M J, Larson E B, Kukull W A, Martin G M, Roses A D

Abstract excerpt

The amyloid precursor protein (APP) gene codes for the precursor to the beta-protein found in the amyloid deposits of Alzheimer disease (AD). Recently Goate et al. identified in codon 717 of this gene a missense mutation which segregates with AD in a familial AD (FAD) kindred. The same mutation was also found in affected subjects from a second FAD family but not in other FAD families or in normal controls. The...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Aged, 80 and over
Share to Alzheimer Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Base Sequence

Share to Europe

Share to Lod Score

Share to Molecular Sequence Data

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 1679288
PMCID: PMC1683125

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease.PMID 1679288Read ↗

Screening of amyloid precursor protein gene mutation (APP 717 Val-->Ile) in Swedish families with 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 ↗

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

Screening for mutations at codon 717 of the amyloid precursor protein gene in 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 ↗

Segregation of a missense mutation in the amyloid β-protein precursor gene with familial Alzheimer's diseaseSemantic 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 ↗

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 ↗

The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.Semantic proximity Read ↗

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

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

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