De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-o...
De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease
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Author / Creator
CNR-MAJ collaborators , Rovelet-Lecrux, A , Charbonnier, C , Wallon, D , Nicolas, G , Seaman, M N J , Pottier, C , Breusegem, S Y , Mathur, P P , Jenardhanan, P , Le Guennec, K , Mukadam, A S , Quenez, O , Coutant, S , Rousseau, S , Richard, A-C , Boland, A , Deleuze, J-F , Frebourg, T , Hannequin, D and Campion, D
Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
We hypothesized that
de novo
variants (DNV) might participate in the genetic determinism of sporadic early-onset Alzheimer disease (EOAD, onset before 65 years). We investigated 14 sporadic EOAD trios first by array-comparative genomic hybridization. Two patients carried a
de novo
copy number variation (CNV). We then performed whole-exo...
Alternative Titles
Full title
De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease
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Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_cea_04601723v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_cea_04601723v1
Other Identifiers
ISSN
1359-4184
E-ISSN
1476-5578
DOI
10.1038/mp.2015.100
