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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書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: MDPI AG 2019-10-01
シリーズ:International Journal of Molecular Sciences
主題:
brugada syndrome
sudden cardiac death
genetic testing
mutation
<i>scn5a</i>
sodium channel
arrhythmia
channelopathy
family
point-nonsense mutation
オンライン･アクセス:https://www.mdpi.com/1422-0067/20/19/4920
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