Whole-exome sequencing identified a de novo mutation of junction plakoglobin (p.r577c) in a chinese patient with arrhythmogenic right ventricular cardiomyopathy

HIGHLIGHTS

• who: Arrhythmogenic Right Ventricular Cardiomyopathy and collaborators from the Department of Respiratory Medicine, Diagnosis and Treatment Center of Respiratory Disease, The Second Xiangya Hospital of Central South University, Changsha, Hunan, China have published the paper: Whole-Exome Sequencing Identified a De Novo Mutation of Junction Plakoglobin (p.R577C) in a Chinese Patient with Arrhythmogenic Right Ventricular Cardiomyopathy, in the Journal: BioMed Research International of 28/05/2019
• what: The authors reported a novel de novo mutation (c.1729C>T/p.R577C) of JUP in a Chinese patient with suspicious ARVC.
• how: The DNA . . .
  

   

  

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