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Article

A novel mutation in the beta-protein coding region of the amyloid beta-protein precursor (APP) gene.

Human genetics - 1 Jul 1992

Balbín M, Abrahamson M, Gustafson L, Nilsson K, Brun A, Grubb A

Abstract excerpt

A novel mutation, a C to T transition at base pair 2124 in exon 17 of the amyloid beta-protein precursor (APP) gene, has been identified by direct sequencing of amplified DNA from two Alzheimer's disease (AD) patients. A simple oligonucleotide-hybridization procedure was developed to allow population studies of this DNA variation. The mutation, which is silent at the protein level, was present in 2 out of 12...

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Source

Identifiers

PMID: 1634237
DOI: 10.1007/BF00219191

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.

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