Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia

Medicine & Life Sciences

• Cations 10%
• Channelopathies 15%
• Differentiation Antigens 11%
• Erythrokeratodermia Variabilis 100%
• Gain of Function Mutation 70%
• Keratinocytes 20%
• Maintenance 7%
• Membrane Potentials 10%
• Missense Mutation 10%
• Monovalent Cations 15%
• Mutation 5%
• Protein Domains 10%
• S 6 14%
• Skin 29%
• Transient Receptor Potential Channels 27%
• Up-Regulation 7%

Chemical Compounds

• Cation 15%
• Disorder 22%
• Marker 23%
• Membrane Potential 28%
• Monoatomic Monocation 31%
• Mutation 44%
• Protein 10%
• Substitution Reaction 16%