Large Genomic Imbalances in Brugada Syndrome

PURPOSE: Brugada syndrome (BrS) is a form of cardiac arrhythmia which may lead to sudden cardiac death. The recommended genetic testing (direct sequencing of SCN5A) uncovers disease-causing SNVs and/or indels in ~20% of cases. Limited information exists about the frequency of copy number variants (C...

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Detalles Bibliográficos
Autores principales: Mademont-Soler, Irene, Pinsach-Abuin, Mel·lina, Riuró, Helena, Mates, Jesus, Pérez-Serra, Alexandra, Coll, Mònica, Porres, José Manuel, del Olmo, Bernat, Iglesias, Anna, Selga, Elisabet, Picó, Ferran, Pagans, Sara, Ferrer-Costa, Carles, Sarquella-Brugada, Geòrgia, Arbelo, Elena, Cesar, Sergi, Brugada, Josep, Campuzano, Óscar, Brugada, Ramon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042553/
https://www.ncbi.nlm.nih.gov/pubmed/27684715
http://dx.doi.org/10.1371/journal.pone.0163514

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042553/
https://www.ncbi.nlm.nih.gov/pubmed/27684715
http://dx.doi.org/10.1371/journal.pone.0163514

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