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Article

Association between presenilin-1 -48C/T polymorphism and Down's syndrome.

Neuroscience letters - 26 Aug 2004

Lucarelli Paola, Piciullo Antonella, Palmarino Mariella, Verdecchia Magda, Saccucci Patrizia, Arpino Carla, Curatolo Paolo

Abstract excerpt

Individuals with Down's syndrome (DS), i.e., trisomy 21, over 40 years of age, are likely to develop neuropathological changes characteristic of Alzheimer's disease (AD). The involvement of chromosome 21 both in DS and AD suggests a shared genetic susceptibility to these disorders, but genetic determinants are still undefined. The -48C/T polymorphism in the PSEN1 promoter is a possible candidate, since it has...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15308304
DOI: 10.1016/j.neulet.2004.05.086

Genes

PSEN1
TNF

Provenance

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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