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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:PLoS One
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2016
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5042553/
https://ncbi.nlm.nih.gov/pubmed/27684715
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0163514
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