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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...

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Source

Identifiers

PMID: 1302033
DOI: 10.1038/ng0892-345

Genes

APP

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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→

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A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid.PMID 1302033Read ↗

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

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A novel silent variant at codon 711 and a variant at codon 708 of the APP sequence detected in Spanish Alzheimer and control cases.Semantic proximity Read ↗

The 717Val----Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups.Semantic proximity Read ↗

Screening Alzheimer's disease patients for mutations in the amyloid precursor protein gene.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 ↗

Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene.Semantic proximity Read ↗

Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene.Semantic proximity Read ↗

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A large Swedish family with Alzheimer's disease with a codon 670/671 amyloid precursor protein mutation. A clinical and genealogical investigation.Semantic proximity Read ↗

Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's diseaseSemantic proximity Read ↗

The Protective A673T Mutation of Amyloid Precursor Protein (APP) in Alzheimer’s DiseaseSemantic proximity Read ↗

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