Article
The RNA Exosome and Human Disease.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2020
Fasken Milo B, Morton Derrick J, Kuiper Emily G, Jones Stephanie K, Leung Sara W, Corbett Anita H
Abstract excerpt
The evolutionarily conserved RNA exosome is a multisubunit ribonuclease complex that processes and/or degrades numerous RNAs. Recently, mutations in genes encoding both structural and catalytic subunits of the RNA exosome have been linked to human disease. Mutations in the structural exosome gene EXOSC2 cause a distinct syndrome that includes retinitis pigmentosa, hearing loss, and mild intellectual disability....
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