A novel missense mutation (R712L) adjacent to the "active thiol" region of the cardiac beta-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family

Hum Mutat. 2000 Mar;15(3):298-9. doi: 10.1002/(SICI)1098-1004(200003)15:3<298::AID-HUMU22>3.0.CO;2-7.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Arginine / genetics
  • Cardiomyopathy, Hypertrophic / genetics*
  • Child
  • Female
  • Humans
  • India
  • Leucine / genetics
  • Male
  • Molecular Sequence Data
  • Mutation, Missense
  • Myosin Heavy Chains / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational

Substances

  • Arginine
  • Myosin Heavy Chains
  • Leucine

Associated data

  • GENBANK/M58018