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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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Detalhes bibliográficos
Publicado no:J Alzheimers Dis
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: IOS Press 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5240543/
https://ncbi.nlm.nih.gov/pubmed/27911290
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JAD-160091
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