A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene

Medicin og biovidenskab

• human INSR protein 100%
• Hypoglycemia 63%
• Mutation 36%
• Genes 26%
• Insulin Resistance 20%
• Insulin 16%
• Glucose Tolerance Test 16%
• Phenotype 14%
• insulin receptor tyrosine kinase 12%
• Glucose Clamp Technique 9%
• C-Peptide 9%
• Insulin Receptor 9%
• Pedigree 8%
• Hyperinsulinism 8%
• Heterozygote 8%
• Missense Mutation 8%
• Siblings 7%
• Serum 7%
• Fasting 6%
• Mothers 5%
• Glucose 5%
• DNA 4%