Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. We screened 751 familial ALS patient whole-exome sequences and identified six mutations including p.D40G in the ANXA11 gene in 13 individuals. The p.D40G mutation was absent from 70,000 control whole-exome sequences. This mut...

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Päätekijät: Smith, B, Topp, S, Fallini, C, Shibata, H, Chen, H, Troakes, C, King, A, Ticozzi, N, Kenna, K, Sato, A, Soragia-Gkazi, A, Miller, J, Vance, C, Wong, C, de Majo, M, Kuttuah, W, Mitchell, J, Scotter, E, Parkin, N, Sapp, P, Nolan, M, Nestor, P, Simpson, M, Baas, F, de Jong, V, ten Asbroek, A, Redondo, A, Esteban-Perez, J, Tiloca, C, Verde, F, Dugo, S, Leigh, P, Pall, H, Morrison, K, Al-Chalabi, A, Shaw, P, Kirby, J, Turner, M, Talbot, K, Hardiman, O, Glass, J, de Belleroche, J, Maki, M, Moss, S, Miller, C, Gellera, C, Ratti, A, Al-Sarraj, S, Brown, R, Silani, V, Landers, J, Shaw, C
Aineistotyyppi: Journal article
Julkaistu: American Association for the Advancement of Science 2017

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