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

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 involved in AD....

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Detalles Bibliográficos
Autores principales: Paracchini, Lara, Beltrame, Luca, Boeri, Lucia, Fusco, Federica, Caffarra, Paolo, Marchini, Sergio, Albani, Diego, Forloni, Gianluigi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182820/
https://www.ncbi.nlm.nih.gov/pubmed/30309378
http://dx.doi.org/10.1186/s13195-018-0435-2

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