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Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics
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 surveillance mechanism that detects and destroys PTC-contai...
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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6522067/ https://ncbi.nlm.nih.gov/pubmed/30689859 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz028 |
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