An overview and update of ATP7A mutations leading to menkes disease and occipital horn syndrome

Medicin og biovidenskab

• Occipital horn syndrome 100%
• Menkes Kinky Hair Syndrome 79%
• Copper 34%
• Mutation 28%
• copper histidine 16%
• X-Linked Genes 10%
• Gene Deletion 9%
• Hair 8%
• Connective Tissue 8%
• Animal Models 6%
• Enzymes 4%
• Genes 3%
• Proteins 3%
• Therapeutics 1%