A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

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Morgan, S.; Shatunov, A.; Sproviero, W.; Jones, A.R.; Shoai, M.; Hughes, D.; Al Khleifat, A.; Malaspina, A.; Morrison, K.E.; Shaw, P.J.; Shaw, C.E.; Sidle, K.; Orrell, R.W.; Fratta, P.; Hardy, J.; Pittman, A.; Al-Chalabi, A.;
(2017)
  • Publisher: Oxford University Press

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 comprehens... View more
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