Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy

J Med Genet. 2003 May;40(5):e59. doi: 10.1136/jmg.40.5.e59.
No abstract available

Publication types

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

MeSH terms

  • AMP-Activated Protein Kinases
  • Cardiomyopathy, Hypertrophic / genetics*
  • Chromatography, High Pressure Liquid
  • DNA Mutational Analysis / methods*
  • Electrophoresis, Capillary
  • Fluorescence
  • Genetic Testing / methods*
  • Genotype
  • Humans
  • Multienzyme Complexes / genetics
  • Mutation / genetics*
  • Nucleic Acid Denaturation
  • Polymorphism, Single-Stranded Conformational*
  • Protein Serine-Threonine Kinases / genetics
  • Reproducibility of Results
  • Sensitivity and Specificity
  • Temperature
  • Tropomyosin / genetics
  • Troponin I / genetics
  • Troponin T / genetics
  • alpha-Galactosidase / genetics

Substances

  • Multienzyme Complexes
  • Tropomyosin
  • Troponin I
  • Troponin T
  • Protein Serine-Threonine Kinases
  • AMP-Activated Protein Kinases
  • alpha-Galactosidase