Articles with "chm mrna" as a keyword



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Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics

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Published in 2019 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddz028

Abstract: Abstract Choroideremia (CHM) is an x-linked recessive chorioretinal dystrophy, with 30% caused by nonsense mutations in the CHM gene resulting in an in-frame premature termination codon (PTC). Nonsense-mediated mRNA decay (NMD) is the cell’s natural… read more here.

Keywords: chm mrna; mediated mrna; efficiency; mrna decay ... See more keywords