Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome

Medicine & Life Sciences

• Hyperferritinemia, hereditary, with congenital cataracts 100%
• Thermodynamics 64%
• Iron-Regulatory Proteins 50%
• Iron 44%
• Ferritins 33%
• Apoferritins 31%
• Mutation 29%
• Cataract 19%
• Inborn Genetic Diseases 19%
• Binding Sites 16%
• Population Biological Variation 12%
• Human Genetics 12%
• Protein Binding 10%
• Proteins 7%
• RNA 7%
• Messenger RNA 6%
• Serum 4%
• In Vitro Techniques 4%

Chemical Compounds

• Mutation 44%
• Ferritin 39%
• Thermodynamics 32%
• Disorder 18%
• Protein 13%
• Secondary Structure 9%
• Kd 8%
• Binding Site 7%