Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy

Circ Genom Precis Med. 2020 Jun;13(3):e002905. doi: 10.1161/CIRCGEN.120.002905. Epub 2020 May 12.
No abstract available

Keywords: MYBPC3; cardiomyopathy, hypertrophic; cryptic splice sites; genetics; introns.

Publication types

  • Clinical Trial
  • Letter
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cardiomyopathy, Hypertrophic / genetics*
  • Carrier Proteins / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Point Mutation*
  • RNA Splice Sites*
  • RNA Splicing*

Substances

  • Carrier Proteins
  • RNA Splice Sites
  • myosin-binding protein C