Article
Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the TYK2 gene.
Neurology - 31 Jul 2012
Dyment David A, Cader M Zameel, Chao Michael J, Lincoln Matthew R, Morrison Katie M, Disanto Giulio, Morahan Julia M, De Luca Gabriele C, Sadovnick A Dessa, Lepage Pierre, Montpetit Alexandre, Ebers George C, Ramagopalan Sreeram V
Abstract excerpt
OBJECTIVE: To identify rare variants contributing to multiple sclerosis (MS) susceptibility in a family we have previously reported with up to 15 individuals affected across 4 generations. METHODS: We performed exome sequencing in a subset of affected individuals to identify novel variants contributing to MS risk within this unique family. The candidate variant was genotyped in a validation cohort of 2,104 MS...
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