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Article

Analysis of the 5′ Sequence, Genomic Structure, and Alternative Splicing of thepresenilin-1Gene (PSEN1) Associated with Early Onset Alzheimer Disease

1 Mar 1997

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

Identifiers

PMID: 9073509
DOI: 10.1006/geno.1996.4523

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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

Research trail→

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Analysis of the 5′ Sequence, Genomic Structure, and Alternative Splicing of thepresenilin-1Gene (PSEN1) Associated with Early Onset Alzheimer DiseasePMID 9073509Read ↗

The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD familiesSemantic proximity Read ↗

Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression.Semantic proximity Read ↗

An intronic rare mutation in Presenilin-1 (PSEN-1) gene may be involved in the developement of Alzheimer’s diseaseSemantic proximity Read ↗

Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease.Semantic proximity Read ↗

Clinical and functional evidence supporting the pathogenicity of the novel PSEN1 p.R358P variant in early-onset Alzheimer's disease.Semantic proximity Read ↗

Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease.Semantic proximity Read ↗

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.Semantic proximity Read ↗

Identification and characterization of variants in PSEN1, PSEN2, and APP genes in Chinese patients with early-onset Alzheimer's disease.Semantic proximity Read ↗

Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.Semantic proximity Read ↗

Identification of a Pathogenic PSEN1 Ala285Val Mutation Associated with Early-Onset Alzheimer's Disease.Semantic proximity Read ↗

Clinical and Molecular Findings in a Turkish Family Who Had a (c.869- 1G>A) Splicing Variant in PSEN1 Gene with A Rare Condition: The Variant Alzheimer's Disease with Spastic Paraparesis.Semantic proximity Read ↗

Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.Semantic proximity Read ↗

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