Rare Variants in PLD3 Do Not Affect Risk for Early‐Onset Alzheimer Disease in a European Consortium Cohort

Rare variants in the phospholipase D3 gene (PLD3) were associated with increased risk for late‐onset Alzheimer disease (LOAD). We identified a missense mutation in PLD3 in whole‐genome sequence data of a patient with autopsy confirmed Alzheimer disease (AD) and onset age of 50 years. Subsequently, w...

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Detalles Bibliográficos
Autores principales: Cacace, Rita, Van den Bossche, Tobi, Engelborghs, Sebastiaan, Geerts, Nathalie, Laureys, Annelies, Dillen, Lubina, Graff, Caroline, Thonberg, Håkan, Chiang, Huei‐Hsin, Pastor, Pau, Ortega‐Cubero, Sara, Pastor, Maria A., Diehl‐Schmid, Janine, Alexopoulos, Panagiotis, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, Nacmias, Benedetta, Sorbi, Sandro, Sanchez‐Valle, Raquel, Lladó, Albert, Gelpi, Ellen, Almeida, Maria Rosário, Santana, Isabel, Tsolaki, Magda, Koutroumani, Maria, Clarimon, Jordi, Lleó, Alberto, Fortea, Juan, de Mendonça, Alexandre, Martins, Madalena, Borroni, Barbara, Padovani, Alessandro, Matej, Radoslav, Rohan, Zdenek, Vandenbulcke, Mathieu, Vandenberghe, Rik, De Deyn, Peter P., Cras, Patrick, van der Zee, Julie, Sleegers, Kristel, Van Broeckhoven, Christine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5057316/
https://www.ncbi.nlm.nih.gov/pubmed/26411346
http://dx.doi.org/10.1002/humu.22908

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