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Article

Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.

Neuroreport - 29 Feb 1996

Hutton M, Busfield F, Wragg M, Crook R, Perez-Tur J, Clark R F, Prihar G, Talbot C, Phillips H, Wright K, Baker M, Lendon C, Duff K, Martinez A, Houlden H, Nichols A, Karran E, Roberts G, Roques P, Rossor M, Venter J C, Adams M D, Cline R T, Phillips C A, Goate A

Abstract excerpt

The presenilin 1 gene has recently been identified as the locus on chromosome 14 which is responsible for a large proportion of early onset, autosomal dominantly inherited Alzheimer's disease (AD). We have elucidated the intron/exon structure of the gene and designed intronic primers to enable di...

Topics

Alzheimer Disease
Base Sequence
Cluster Analysis
DNA Primers
Exons
Genetic Linkage
Genome
Humans
Ireland
Membrane Proteins
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Open Reading Frames

Presenilin-1

United Kingdom

Source

Identifiers

PMID: 8733749
DOI: 10.1097/00001756-199602290-00029

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8733749-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.PMID 8733749Read ↗

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A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.Semantic proximity Read ↗

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

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The presenilin genes: a new gene family involved in Alzheimer disease pathology.Semantic proximity Read ↗

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