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Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort

Sudden death cases in the young population remain without a conclusive cause of decease in almost 40% of cases. In these situations, cardiac arrhythmia of genetic origin is suspected as the most plausible cause of death. Molecular autopsy may reveal a genetic defect in up to 20% of families. Most th...

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Detalles Bibliográficos
Autores principales: Martinez-Barrios, Estefanía, Sarquella-Brugada, Georgia, Perez-Serra, Alexandra, Fernandez-Falgueras, Anna, Cesar, Sergi, Alcalde, Mireia, Coll, Mónica, Puigmulé, Marta, Iglesias, Anna, Ferrer-Costa, Carles, del Olmo, Bernat, Picó, Ferran, Lopez, Laura, Fiol, Victoria, Cruzalegui, José, Hernandez, Clara, Arbelo, Elena, Díez-Escuté, Nuria, Cerralbo, Patricia, Grassi, Simone, Oliva, Antonio, Toro, Rocío, Brugada, Josep, Brugada, Ramon, Campuzano, Oscar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9902310/
https://www.ncbi.nlm.nih.gov/pubmed/36693943
http://dx.doi.org/10.1007/s00414-023-02951-0