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Article

Influence of low frequency PSEN1 variants on familial Alzheimer's disease risk in Brazil.

Neuroscience letters - 13 Jul 2017

Abdala Bianca Barbosa, Dos Santos Jussara Mendonça, Gonçalves Andressa Pereira, da Motta Luciana Branco, Laks Jerson, de Borges Margarete Borges, Gonçalves Pimentel Márcia Mattos, Santos-Rebouças Cíntia Barros

Abstract excerpt

About 30-70% of familial Alzheimer's disease (AD) cases are related to mutations in presenilin-1 gene (PSEN1). Although the role of mutations and common variants in AD had been extensively investigated, the contribution of rare or low frequency PSEN1 variants on AD risk remains unclear. In the current study, we performed a mutational screening of PSEN1 coding exons and flanking intronic sequences among 53 index...

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Source

Identifiers

PMID: 28554858
DOI: 10.1016/j.neulet.2017.05.053

Genes

PSEN1
APOE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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