Mutations modifying sporadic Alzheimer's disease age of onset

The identification of mutations modifying the age of onset (AOO) in Alzheimer's disease (AD) is crucial for understanding the natural history of AD and, therefore, for early interventions. Patients with sporadic AD (sAD) from a genetic isolate in the extremes of the AOO distribution were whole-...

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Autores:

Tipo de recurso:

Fecha de publicación:

2016

Institución:

Universidad del Rosario

Repositorio:

Repositorio EdocUR - U. Rosario

Idioma:

eng

OAI Identifier:

oai:repository.urosario.edu.co:10336/26192

Acceso en línea:

https://doi.org/10.1002/ajmg.b.32493
https://repository.urosario.edu.co/handle/10336/26192

Palabra clave:

Alzheimer's disease
E280A mutation
G protein-coupled receptors
PSEN1
Age of onset
Extreme phenotypes
Genetic isolates
Modifier genes
Whole exome analysis

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