Stop-codon and C-terminus nonsense mutations are associated with lower risk of cardiac events in Long QT Syndrome Type 1 patients

BACKGROUND: In Long QT Syndrome Type 1 (LQT1), the location and type of mutations have been shown to affect the clinical outcome. Although haploinsufficiency, including stop-codons and frameshift mutations, has been associated with lower risk of cardiac events in LQT1, nonsense mutations have been p...

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Gepubliceerd in:Heart Rhythm
Hoofdauteurs: Ruwald, Martin H., Parks, Xiaorong Xu, Moss, Arthur J., Zareba, Wojciech, Baman, Jayson, McNitt, Scott, Kanters, Jorgen K., Shimizu, Wataru, Wilde, Arthur A., Jons, Christian, Lopes, Coeli M.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2015
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4743743/
https://ncbi.nlm.nih.gov/pubmed/26318259
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2015.08.033
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