A Novel Variant in the ANK2 Membrane-Binding Domain is Associated with Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population with a High Rate of Long QT Syndrome

BACKGROUND: Long QT syndrome (LQTS) confers susceptibility to ventricular arrhythmia, predisposing to syncope, seizures and sudden death. While rare globally, LQTS is ~15 times more common in First Nations of Northern British Columbia largely due to a known mutation in KCNQ1. However, two large mult...

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Publicado no:Circ Cardiovasc Genet
Main Authors: Swayne, Leigh Anne, Murphy, Nathaniel P., Asuri, Sirisha, Chen, Lena, Xu, Xiaoxue, McIntosh, Sarah, Wang, Chao, Lancione, Peter J., Roberts, Jason D., Kerr, Charles, Sanatani, Shubhayan, Sherwin, Elizabeth, Kline, Crystal F., Zhang, Mingjie, Mohler, Peter J., Arbour, Laura T.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5312931/
https://ncbi.nlm.nih.gov/pubmed/28196901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.116.001537
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