Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation

J Med Genet. 2000 Dec;37(12):951-6. doi: 10.1136/jmg.37.12.951.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Alanine / genetics*
  • Amino Acid Substitution / genetics
  • Cardiomyopathy, Hypertrophic / etiology
  • Cardiomyopathy, Hypertrophic / genetics*
  • Child
  • Death, Sudden, Cardiac / etiology
  • Death, Sudden, Cardiac / prevention & control
  • Female
  • Founder Effect*
  • Gene Expression Regulation / genetics*
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Myosin Heavy Chains / biosynthesis
  • Myosin Heavy Chains / genetics*
  • Pedigree
  • Phenotype
  • Prognosis
  • Prospective Studies
  • South Africa
  • Threonine / genetics*

Substances

  • Threonine
  • Myosin Heavy Chains
  • Alanine