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....

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Alzheimers Res Ther
Main Authors: Paracchini, Lara, Beltrame, Luca, Boeri, Lucia, Fusco, Federica, Caffarra, Paolo, Marchini, Sergio, Albani, Diego, Forloni, Gianluigi
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6182820/
https://ncbi.nlm.nih.gov/pubmed/30309378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13195-018-0435-2
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados