Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.

doi:10.1016/j.neurobiolaging.2008.06.012

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Article

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.

Neurobiology of aging - 1 May 2010

Guerreiro Rita Joao, Baquero Miquel, Blesa Rafael, Boada Mercè, Brás Jose Miguel, Bullido Maria J, Calado Ana, Crook Richard, Ferreira Carla, Frank Ana, Gómez-Isla Teresa, Hernández Isabel, Lleó Alberto, Machado Alvaro, Martínez-Lage Pablo, Masdeu José, Molina-Porcel Laura, Molinuevo José L, Pastor Pau, Pérez-Tur Jordi, Relvas Rute, Oliveira Catarina Resende, Ribeiro Maria Helena, Rogaeva Ekaterina, Sa Alfredo, Samaranch Lluís, Sánchez-Valle Raquel, Santana Isabel, Tàrraga Lluís, Valdivieso Fernando, Singleton Andrew, Hardy John, Clarimón Jordi

Abstract excerpt

Mutations in three genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset (<65 years) Alzheimer's disease (AD). We performed a screening for mutations in the coding regions of presenilins, as well as exons 16 and 17 of the APP gene in a total of 231 patients from the Iber...

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Identifiers

PMID: 18667258
DOI: 10.1016/j.neurobiolaging.2008.06.012
PMCID: PMC2850052

Genes

APP
PSEN1
PSEN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18667258-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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