Article
Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen.
The Lancet. Neurology - 1 Apr 2008
Blauw Hylke M, Veldink Jan H, van Es Michael A, van Vught Paul W, Saris Christiaan G J, van der Zwaag Bert, Franke Lude, Burbach J Peter H, Wokke John H, Ophoff Roel A, van den Berg Leonard H
Abstract excerpt
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by the selective death of motor neurons in the brain and spinal cord. Genetic risk factors have been implicated in susceptibility to ALS. Like single nucleotide polymorphisms (SNPs), copy-number variants (CNVs) are a source of genetic variation that have important effects on gene expression and disease phenotypes,...
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