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Article

SORL1 Variants in Familial Alzheimer's Disease.

Journal of Alzheimer's disease : JAD - 1 Jan 2018

Gómez-Tortosa Estrella, Ruggiero María, Sainz Ma José, Villarejo-Galende Alberto, Prieto-Jurczynska Cristina, Venegas Pérez Begoña, Ordás Carlos, Agüero Pablo, Guerrero-López Rosa, Pérez-Pérez Julián

Abstract excerpt

The SORL1 gene encodes a protein involved in the amyloidogenic process, and its variants have been associated with Alzheimer's disease (AD) physiopathology. We screened for SORL1 variants in 124 familial (44 early- and 80 late-onset) dementia of Alzheimer type (DAT) cases. Nine potentially pathogenic changes (three not previously reported and six rare variants) were found in nine probands (7%). After screening...

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Identifiers

PMID: 29376855
DOI: 10.3233/JAD-170590

Genes

SORL1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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