SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families

Brugada syndrome (BrS) is characterized by the type 1 Brugada ECG pattern. Pathogenic rare variants in SCN5A (mutations) are identified in 20% of BrS families in whom incomplete penetrance and genotype-negative phenotype-positive individuals are observed. E1784K-SCN5A is the most common SCN5A mutati...

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Pubblicato in:Circ Genom Precis Med
Autori principali: Wijeyeratne, Yanushi D., Tanck, Michael W., Mizusawa, Yuka, Batchvarov, Velislav, Barc, Julien, Crotti, Lia, Bos, J. Martijn, Tester, David J., Muir, Alison, Veltmann, Christian, Ohno, Seiko, Page, Stephen P., Galvin, Joseph, Tadros, Rafik, Muggenthaler, Martina, Raju, Hariharan, Denjoy, Isabelle, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Skoric-Milosavljevic, Doris, Nannenberg, Eline A., Redon, Richard, Papadakis, Michael, Kyndt, Florence, Dagradi, Federica, Castelletti, Silvia, Torchio, Margherita, Meitinger, Thomas, Lichtner, Peter, Ishikawa, Taisuke, Wilde, Arthur A.M., Takahashi, Kazuhiro, Sharma, Sanjay, Roden, Dan M., Borggrefe, Martin M., McKeown, Pascal P., Shimizu, Wataru, Horie, Minoru, Makita, Naomasa, Aiba, Takeshi, Ackerman, Michael J., Schwartz, Peter J., Probst, Vincent, Bezzina, Connie R., Behr, Elijah R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Lippincott Williams & Wilkins 2020
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7748043/
https://ncbi.nlm.nih.gov/pubmed/33164571
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGEN.120.002911
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