Article
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Brain : a journal of neurology - 1 Jun 2017
Morgan Sarah, Shatunov Aleksey, Sproviero William, Jones Ashley R, Shoai Maryam, Hughes Deborah, Al Khleifat Ahmad, Malaspina Andrea, Morrison Karen E, Shaw Pamela J, Shaw Christopher E, Sidle Katie, Orrell Richard W, Fratta Pietro, Hardy John, Pittman Alan, Al-Chalabi Ammar
Abstract excerpt
Amyotrophic lateral sclerosis is a progressive neurodegenerative disease of motor neurons. About 25 genes have been verified as relevant to the disease process, with rare and common variation implicated. We used next generation sequencing and repeat sizing to comprehensively assay genetic variation in a panel of known amyotrophic lateral sclerosis genes in 1126 patient samples and 613 controls. About 10% of...
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