Analysis of genome-wide copy number variation in Irish and Dutch ALS populations
Amyotrophic lateral sclerosis (ALS) is an unrelenting neurodegenerative condition characterized by adult-onset loss of motor neurons. Genetic risk factors have been implicated in ALS susceptibility. Copy number variants (CNVs) account for more inter-individual genetic variation than SNPs, and have the capacity to alter gene dose and phenotype. We sought to identify the contribution both of commonly polymorphic CNVs and rare ALS-specific CNVs to sporadic ALS. Using high density genome-wide data from 408 Irish individuals and 868 Dutch individuals and the QuantiSNP CNV-detection algorithm, we sh... Mehr ...
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Dokumenttyp: | TEXT |
Erscheinungsdatum: | 2008 |
Verlag/Hrsg.: |
Oxford University Press
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Schlagwörter: | Article |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-28583720 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://hmg.oxfordjournals.org/cgi/content/short/ddn233v1 |