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Nonsense-Mediated mRNA Decay Caused by a Frameshift Mutation in a Large Kindred of Type 2 Long QT Syndrome
BACKGROUND: Nonsense and frameshift mutations are common in congenital long QT syndrome type 2 (LQT2). We previously demonstrated that hERG nonsense mutations cause degradation of mutant mRNA by nonsense-mediated mRNA decay (NMD) and are associated with mild clinical phenotypes. The impact of NMD on...
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| Autores principales: | , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2011
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3161495/ https://ncbi.nlm.nih.gov/pubmed/21419236 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2011.03.039 |
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