ALS Compendium

Title: Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis

Year Published: 2011

Observation: Identified splicing mutation that removes the last 13 amino acids that encode the C terminal portion of FUS

Comment: Identified splicing mutation in C terminal of FUS protein

Citation: Belzil, V. V, St-Onge, J., Daoud, H., Desjarlais, A., Bouchard, J.-P., Dupré, N., … Rouleau, G. a. (2011). Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis. Journal of Human Genetics, 56(3), 247–9. doi:10.1038/jhg.2010.162

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