Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer’s disease

INTRODUCTION: A minority of patients with sporadic early-onset Alzheimer’s disease (AD) exhibit de novo germ line mutations in the autosomal dominant genes such as APP, PSEN1, or PSEN2. We hypothesized that negatively screened patients may harbor somatic variants in these genes. METHODS: We applied...

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Publicado no:Alzheimers Dement
Main Authors: Nicolas, Gaël, Acuña-Hidalgo, Rocío, Keogh, Michael J., Quenez, Olivier, Steehouwer, Marloes, Lelieveld, Stefan, Rousseau, Stéphane, Richard, Anne-Claire, Oud, Manon S., Marguet, Florent, Laquerrière, Annie, Morris, Chris M., Attems, Johannes, Smith, Colin, Ansorge, Olaf, Al Sarraj, Safa, Frebourg, Thierry, Campion, Dominique, Hannequin, Didier, Wallon, David, Gilissen, Christian, Chinnery, Patrick F., Veltman, Joris A., Hoischen, Alexander
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6544509/
https://ncbi.nlm.nih.gov/pubmed/30114415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jalz.2018.06.3056
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