Novel <i>SCN5A</i> p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome

Brugada syndrome (BrS) is marked by an elevated ST-segment elevation and increased risk of sudden cardiac death. Variants in the <i>SCN5A</i> gene are considered to be molecular confirmation of the syndrome in about one third of cases, while the genetics remain a mystery in about half of...

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Bibliografiset tiedot
Päätekijät: Emanuele Micaglio, Michelle M. Monasky, Nicoletta Resta, Rosanna Bagnulo, Giuseppe Ciconte, Luigi Gianelli, Emanuela T. Locati, Gabriele Vicedomini, Valeria Borrelli, Andrea Ghiroldi, Luigi Anastasia, Sara Benedetti, Chiara Di Resta, Maurizio Ferrari, Carlo Pappone
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI AG 2019-10-01
Sarja:International Journal of Molecular Sciences
Aiheet:
brugada syndrome
sudden cardiac death
genetic testing
mutation
<i>scn5a</i>
sodium channel
arrhythmia
channelopathy
family
point-nonsense mutation
Linkit:https://www.mdpi.com/1422-0067/20/19/4920
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