A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer´s Disease

ABSTRACT: We previously reported age of onset (AOO) modifier genes in the world’s largest pedigree segregating early-onset Alzheimer’s disease (AD), caused by the p.Glu280Ala (E280A) mutation in the PSEN1 gene. Here we report the results of a targeted analysis of functional exonic variants in those...

Full description

Autores:

Lopera Restrepo, Francisco Javier
Tobón Quintero, Carlos Andrés
Villegas Lanau, Carlos Andrés
Rivera, Dora
Vélez Valbuena, Jorge Iván
Mastronardi, Claudio A.
Patel, Hardip R.
Cai, Yeping
Easteal, Simon
Arcos Burgos, Oscar Mauricio

Tipo de recurso:

Article of investigation

Fecha de publicación:

2016

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/36734

Acceso en línea:

https://hdl.handle.net/10495/36734

Palabra clave:

Enfermedad de Alzheimer
Alzheimer Disease
Proteínas Portadoras
Carrier Proteins
Predisposición Genética a la Enfermedad
Genetic Predisposition to Disease
Péptidos y Proteínas de Señalización Intracelular
Intracellular Signaling Peptides and Proteins
Presenilina-1
Presenilin-1
Exones
Exons

Rights

openAccess

License

https://creativecommons.org/licenses/by/4.0/