Article
Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.
Human molecular genetics - 1 Jun 2012
Herdewyn Sarah, Zhao Hui, Moisse Matthieu, Race Valérie, Matthijs Gert, Reumers Joke, Kusters Benno, Schelhaas Helenius J, van den Berg Leonard H, Goris An, Robberecht Wim, Lambrechts Diether, Van Damme Philip
Abstract excerpt
Motor neuron degeneration in amyotrophic lateral sclerosis (ALS) has a familial cause in 10% of patients. Despite significant advances in the genetics of the disease, many families remain unexplained. We performed whole-genome sequencing in five family members from a pedigree with autosomal-dominant classical ALS. A family-based elimination approach was used to identify novel coding variants segregating with the...
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