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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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Autori principali: Zarraga, Ignatius Gerardo, Zhang, Li, Stump, Matthew R., Gong, Qiuming, Vincent, G. Michael, Zhou, Zhengfeng
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2011
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Accesso online: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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