Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy

Medicine & Life Sciences

• frataxin 100%
• Hypertrophic Cardiomyopathy 73%
• Mutation 36%
• myosin-binding protein C 12%
• Friedreich Ataxia 11%
• Deficiency Diseases 11%
• Protein Precursors 10%
• Genetic Heterogeneity 9%
• Mitochondrial Proteins 9%
• Cardiomegaly 8%
• Mutant Proteins 8%
• Site-Directed Mutagenesis 8%
• DNA Sequence Analysis 8%
• Muscle Cells 7%
• In Vitro Techniques 7%
• Mitochondria 6%
• Yeasts 6%
• Oxidative Stress 5%
• Kinetics 5%
• Phenotype 4%
• Genes 3%
• Proteins 2%

Chemical Compounds

• Mutation 54%
• Protein 13%
• Protein C 11%
• DNA Sequencing 9%
• Site-Directed Mutagenesis 8%
• Oxidative Stress 7%
• Heterogeneity 7%
• Cleavage 5%