Exome sequencing in an Italian family with Alzheimer’s disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H

Exome sequencing in an Italian family with Alzheimer’s disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H

Abstract Background The typical familial form of Alzheimer’s disease (FAD) accounts for about 5% of total Alzheimer’s disease (AD) cases. Presenilins (PSEN1 and PSEN2) and amyloid-β (A4) precursor protein (APP) genes carry all reported FAD-linked mutations. However, other genetic loci may be involve...

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Bibliographic Details
Main Authors: Lara Paracchini, Luca Beltrame, Lucia Boeri, Federica Fusco, Paolo Caffarra, Sergio Marchini, Diego Albani, Gianluigi Forloni
Format: Article
Language:English
Published: BMC 2018-10-01
Series:Alzheimer’s Research & Therapy
Subjects:
Alzheimer’s disease
SEZ6
Exome sequencing
Rare variants
Online Access:http://link.springer.com/article/10.1186/s13195-018-0435-2

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http://link.springer.com/article/10.1186/s13195-018-0435-2

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