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Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer’s Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity

Background: The major genetic risk factor for late onset Alzheimer’s disease (AD) is the APOE-ɛ4 allele. However, APOE-ɛ4 homozygosity is not fully penetrant, suggesting co-occurrence of additional genetic variants. Objective: To identify genetic factors that, next to APOE-ɛ4 homozygosity, contribut...

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Detalles Bibliográficos
Autores principales: Louwersheimer, Eva, Cohn-Hokke, Petra E., Pijnenburg, Yolande A.L., Weiss, Marjan M., Sistermans, Erik A., Rozemuller, Annemieke J., Hulsman, Marc, van Swieten, John C., van Duijn, Cock M., Barkhof, Frederik, Koene, Teddy, Scheltens, Philip, Van der Flier, Wiesje M., Holstege, Henne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240543/
https://www.ncbi.nlm.nih.gov/pubmed/27911290
http://dx.doi.org/10.3233/JAD-160091