ALS Compendium

Title: Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

Year Published: 2009

Observation: Found 13 FUS mutations in fALS patients but none in sALS patients. Estimate that FUS mutations are found in 5% of fALS

Comment: Identified FUS mutation as cause of fALS

Citation: Kwiatkowski, T. J., Bosco, D. a, Leclerc, a L., Tamrazian, E., Vanderburg, C. R., Russ, C., … Brown, R. H. (2009). Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science (New York, N.Y.), 323(5918), 1205–8. doi:10.1126/science.1166066

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