Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples

Autor: Monica Coll, Anna Fernandez-Falgueras, Anna Iglesias, Bernat del Olmo, Laia Nogue-Navarro, Adria Simon, Alexandra Perez Serra, Marta Puigmule, Laura Lopez, Ferran Pico, Monica Corona, Marta Vallverdu-Prats, Coloma Tiron, Oscar Campuzano, Josep Castella, Ramon Brugada, Mireia Alcalde

Publikováno v: International Journal of Molecular Sciences; Volume 23; Issue 20; Pages: 12640
International Journal of Molecular Sciences, 2022, vol. 23, núm. 20, p. 12640
Articles publicats (D-CM)
DUGiDocs – Universitat de Girona
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Molecular screening for pathogenic mutations in sudden cardiac death (SCD)-related genes is common practice for SCD cases. However, test results may lead to uncertainty because of the identification of variants of unknown significance (VUS) occurring

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fffa5c3a0bc858414e62d2d430e7669

Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis

Autor: Juan Carlos Borondo, Alexandra Pérez-Serra, Jordi Medallo, Josep Castellà, Olallo Sanchez-Molero, Bernat del Olmo, Oscar Campuzano, Georgia Sarquella-Brugada, Josep Brugada, Irene Mademont-Soler, Jesus Mates, Monica Coll, Esther Carro, Ramon Brugada, Anna Fernandez, Sergi Cesar, Anna Iglesias, Ferran Picó, Laia Nogue-Navarro

Publikováno v: Sports medicine (Auckland, N.Z.). 47(10)

Sudden cardiac death is a natural and unexpected death that occurs within 1 h of the first symptom. Most sudden cardiac deaths occur during exercise, mostly as a result of myocardial infarction. After autopsy, some cases, especially in the young, are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e98db753aa3864268ddc1c5e2e5427e0
https://pubmed.ncbi.nlm.nih.gov/28255936