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Premature termination codons in the DMD gene cause reduced local mRNA synthesis

Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene leading to the presence of premature termination codons (PTC). Previous transcriptional studies have shown reduced DMD transcript levels in DMD patient and animal model muscles when PTC are present. Nonsense-mediated decay (NMD...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: García-Rodríguez, Raquel, Hiller, Monika, Jiménez-Gracia, Laura, van der Pal, Zarah, Balog, Judit, Adamzek, Kevin, Aartsma-Rus, Annemieke, Spitali, Pietro
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7368324/
https://ncbi.nlm.nih.gov/pubmed/32616572
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1910456117
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