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Article

Identification of two pathogenic mutations in SORL1 in early-onset Alzheimer's disease.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Jul 2021

Qiu Guozhen, Zhu Fei-Qi, Xu Chunyan

Abstract excerpt

The sortilin-related receptor 1 (SORL1) gene has been the subject of many studies focusing on frequent polymorphisms, which is associated with increased risk for Alzheimer's Disease (AD). By whole-exome sequencing (WES), we identified two pathogenic missense mutations c.579C > G (p.F193L) and c.1397A > G (p.N466S) in SORL1. The two mutations were located in the same protein domain, and the two unrelated probands...

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Identifiers

PMID: 34119275
DOI: 10.1016/j.jocn.2021.05.020

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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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