Article
Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.
Annals of neurology - 1 Jan 2015
Cady Janet, Allred Peggy, Bali Taha, Pestronk Alan, Goate Alison, Miller Timothy M, Mitra Robi D, Ravits John, Harms Matthew B, Baloh Robert H
Abstract excerpt
OBJECTIVE: To define the genetic landscape of amyotrophic lateral sclerosis (ALS) and assess the contribution of possible oligogenic inheritance, we aimed to comprehensively sequence 17 known ALS genes in 391 ALS patients from the United States. METHODS: Targeted pooled-sample sequencing was used to identify variants in 17 ALS genes. Fragment size analysis was used to define ATXN2 and C9ORF72 expansion sizes....
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