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Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole-exome sequencing.

Ming-Bao RenXiao-Rui ChaiLin LiXin WangChenghong Yin
Published in: Molecular genetics & genomic medicine (2020)
We added the notion that not only p.Ile736Thr variant of MYH7, but also TNNI3 deletion might potentially contribute to HCM pathogenesis. Our study also suggested WES was a powerful tool to identify the genetic variants causing HCM.
Keyphrases
  • hypertrophic cardiomyopathy
  • left ventricular
  • early onset
  • mitochondrial dna
  • human health
  • dna methylation
  • climate change