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Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans

An expansion of the hexanucleotide GGGGCC repeat in the first intron of C9ORF72 gene was recently linked to amyotrophic lateral sclerosis. It is not known if the mutation results in a gain of function, a loss of function or if, perhaps both mechanisms are linked to pathogenesis. We generated a genet...

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Detalles Bibliográficos
Autores principales: Therrien, Martine, Rouleau, Guy A., Dion, Patrick A., Parker, J. Alex
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3861484/
https://www.ncbi.nlm.nih.gov/pubmed/24349511
http://dx.doi.org/10.1371/journal.pone.0083450