Discovery and validation of dominantly inherited Alzheimer’s disease mutations in populations from Latin America

BACKGROUND: In fewer than 1% of patients, AD is caused by autosomal dominant mutations in either the presenilin 1 (PSEN1), presenilin 2 (PSEN2), or amyloid precursor protein (APP) genes. The full extent of familial AD and frequency of these variants remains understudied in Latin American (LatAm) cou...

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Detalles Bibliográficos
Autores principales: Takada, Leonel Tadao, Aláez-Verson, Carmen, Burgute, Bhagyashri D., Nitrini, Ricardo, Sosa, Ana Luisa, Castilhos, Raphael Machado, Chaves, Marcia Fagundes, Longoria, Erika-Mariana, Carrillo-Sánchez, Karol, Brucki, Sonia Maria Dozzi, Flores-Lagunes, Luis Leonardo, Molina, Carolina, Olivares, Marcos Jimenez, Ziegemeier, Ellen, Petranek, Jennifer, Goate, Alison M., Cruchaga, Carlos, Renton, Alan E., Fernández, Maria Victoria, Day, Gregory S., McDade, Eric, Bateman, Randall J., Karch, Celeste M., Llibre-Guerra, Jorge J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9354296/
https://www.ncbi.nlm.nih.gov/pubmed/35932032
http://dx.doi.org/10.1186/s13195-022-01052-1

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