A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in the TP63 gene in patients with arrhythmogenic cardiomyopathy

Giulia Poloni, Martina Calore, Ilaria Rigato, Elena Marras, Giovanni Minervini, Elisa Mazzotti, Alessandra Lorenzon, Ilena Egle Astrid Li Mura, Andrea Telatin, Ivano Zara, Barbara Simionati, Martina Perazzolo Marra, Jessica Ponti, Gianluca Occhi, Libero Vitiello, Luciano Daliento, Gaetano Thiene, Cristina Basso, Domenico Corrado, Silvio TosattoBarbara Bauce, Alessandra Rampazzo*, Marzia De Bortoli

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)773-780
Number of pages8
JournalHeart Rhythm
Volume16
Issue number5
DOIs
Publication statusPublished - May 2019

Keywords

  • Arrhythmogenic cardiomyopathy
  • Sudden cardiac death
  • Targeted gene panel
  • TP63 gene
  • PPP1R13L gene
  • RIGHT-VENTRICULAR CARDIOMYOPATHY
  • P63 GENE
  • MUTATIONS
  • P53
  • ADHESION
  • IASPP

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