Targeted Long-Read RNA Sequencing Demonstrates Transcriptional Diversity Driven by Splice-Site Variation in MYBPC3

Circ Genom Precis Med. 2019 May;12(5):e002464. doi: 10.1161/CIRCGEN.119.002464.
No abstract available

Keywords: alleles; alternative splicing; cardiomyopathy, hypertrophic; exome; humans.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Cardiomyopathy, Hypertrophic / genetics*
  • Carrier Proteins / genetics*
  • Cohort Studies
  • Exome Sequencing
  • Exons
  • Female
  • Humans
  • RNA Interference*
  • Sequence Analysis, RNA
  • Transcription, Genetic
  • Young Adult

Substances

  • Carrier Proteins
  • myosin-binding protein C