Origin of the PSEN1 E280A mutation causing early–onset Alzheimer’s disease

ABSTRACT: Background: A mutation in presenilin 1 (E280A) causes early-onset Alzheimer's disease. Understanding the origin of this mutation will inform medical genetics. Methods: We sequenced the genomes of 102 individuals from Antioquia, Colombia. We applied identity-by-descent analysis to iden...

Full description

Autores:

Arcila, Mary L.
Cadavid Celis, Liliana
Moreno Másmela, Sonia
García Ospina, Gloria Patricia
Madrigal, Lucía
Arcos Burgos, Oscar Mauricio
Bedoya Berrío, Gabriel de Jesús
Lopera Restrepo, Francisco Javier
Lalli, Matthew A.
Cox, Hannah C.
Brunkow, Mary E.
Glusman, Gustavo
Roach, Jared C.
Hood, Leroy
Kosik, Kenneth S.
Reiman, Eric M.

Tipo de recurso:

Article of investigation

Fecha de publicación:

2014

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/39585

Acceso en línea:

https://hdl.handle.net/10495/39585

Palabra clave:

Edad de Inicio
Age of Onset
Enfermedad de Alzheimer
Alzheimer Disease
Efecto Fundador
Founder Effect
Predisposición Genética a la Enfermedad
Genetic Predisposition to Disease
Haplotipos
Haplotypes
Patrón de Herencia
Inheritance Patterns
Presenilina-1
Presenilin-1
Colombia
https://id.nlm.nih.gov/mesh/D017668
https://id.nlm.nih.gov/mesh/D000544
https://id.nlm.nih.gov/mesh/D018703
https://id.nlm.nih.gov/mesh/D020022
https://id.nlm.nih.gov/mesh/D006239
https://id.nlm.nih.gov/mesh/D040582
https://id.nlm.nih.gov/mesh/D003105

Rights

openAccess

License

https://creativecommons.org/licenses/by-nc-nd/4.0/