Article
Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.
PLoS genetics - 1 Oct 2014
Couthouis Julien, Raphael Alya R, Daneshjou Roxana, Gitler Aaron D
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease that results in progressive degeneration of motor neurons, ultimately leading to paralysis and death. Approximately 10% of ALS cases are familial, with the remaining 90% of cases being sporadic. Genetic studies in familial cases of ALS have been extremely informative in determining the causative mutations behind ALS, especially as the...
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