Identification of a novel loss-of-function C9orf72 splice site mutation in a patient with amyotrophic lateral sclerosis

Published 2016 View Full Article

Authors

Keywords

Amyotrophic lateral sclerosis, C9orf72, GGGGCC hexanucleotide repeat expansion, Splice site mutation, Loss-of-function

Journal

NEUROBIOLOGY OF AGING

Volume 47, Issue -, Pages 219.e1-219.e5

Publisher

Elsevier BV

Online

2016-08-10

DOI

10.1016/j.neurobiolaging.2016.07.027

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