De novo deleterious genetic variations target a biological network centered on A[beta] peptide in ea...
De novo deleterious genetic variations target a biological network centered on A[beta] peptide in early-onset Alzheimer disease
About this item
Full title
Author / Creator
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
New York: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group
Subjects
More information
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-exome sequencin...
Alternative Titles
Full title
De novo deleterious genetic variations target a biological network centered on A[beta] peptide in early-onset Alzheimer disease
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_1705789568
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1705789568
Other Identifiers
ISSN
1359-4184
E-ISSN
1476-5578
DOI
10.1038/mp.2015.100
