Article
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Dec 2018
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
Abstract excerpt
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 an ultrasensitive approach based on single-molecule molecular inversion probes followed by deep next generation...
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