A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid.

doi:10.1038/ng0892-345

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Article

A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid.

Nature genetics - 1 Aug 1992

Mullan M, Crawford F, Axelman K, Houlden H, Lilius L, Winblad B, Lannfelt L

Abstract excerpt

Mutations at codon 717 in exon 17 of the beta-amyloid precursor protein (APP) gene have previously been shown to segregate with early onset Alzheimer's disease in some families. We have identified a double mutation at codons 670 and 671 (APP 770 transcript) in exon 16 which co-segregates with the disease in two large (probably related) early-onset Alzheimer's disease families from Sweden. Two base pair...

Topics

Alzheimer Disease
Amino Acid Sequence
Amyloid beta-Protein Precursor
Base Sequence
Brain
Codon
Exons
Female
Genetic Linkage
Genetic Variation
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Molecular Sequence Data

Oligodeoxyribonucleotides

Pedigree

Point Mutation

Transcription, Genetic

Source

Open in PubMed

Identifiers

PMID: 1302033
DOI: 10.1038/ng0892-345

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1302033-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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