Hyperinsulinism of infancy: Novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity

Keyphrases

• ABCC8 Gene 100%
• ABCC8 100%
• Locus Heterogeneity 100%
• Hyperinsulinism 100%
• KCNJ11 Gene 100%
• KCNJ11 100%
• Exon 66%
• Coding Region 66%
• Coenzyme A 66%
• Short Chain 66%
• Novel mutation 66%
• Glucokinase 66%
• SUR1 66%
• Dehydrogenase 66%
• GLUD1 66%
• Coding Sequence 33%
• Missense mutation 33%
• Reporter Gene 33%
• Decreased Expression 33%
• Promoter Region 33%
• Functional Studies 33%
• Channel Activity 33%
• Reconstituted System 33%
• Dysregulation 33%
• Severe Hypoglycemia 33%
• Coding Exons 33%
• Heterologous Expression System 33%
• Mutation Detection 33%
• Direct Sequencing 33%
• Insulin Secretion 33%
• Genetic Heterogeneity 33%
• KATP Channel 33%
• Glutamate Dehydrogenase 33%
• Intracellular Trafficking 33%
• Onodi Cell 33%
• Photolabeling 33%
• Heterogeneous Disease 33%
• Promoter mutation 33%
• Inward Rectifier Potassium Channel 33%

Biochemistry, Genetics and Molecular Biology

• Infancy 100%
• ABCC8 100%
• Exon 75%
• Promoter Region 50%
• Intron 50%
• Coding Region 50%
• Potassium Channel 50%
• Glucokinase 50%
• Hydroxyacyl-Coenzyme A Dehydrogenase 50%
• Heterologous Expression 25%
• Reporter Gene 25%
• Insulin Release 25%
• Adenosine Triphosphate 25%
• Pribnow Box 25%
• Missense Mutation 25%
• Candidate Gene 25%
• Gene Expression System 25%
• Genetic Heterogeneity 25%
• Sulfonylurea Receptor 25%
• Intracellular Trafficking 25%
• Glutamate Dehydrogenase 25%
• Photoaffinity Labeling 25%

Neuroscience

• Exon 100%
• Promoter Region 100%
• Intron 66%
• Coding Region 66%
• Potassium Channel 66%
• Glucokinase 66%
• 3 Hydroxyacyl Coenzyme A Dehydrogenase 66%
• Missense Mutation 33%
• Adenosine Triphosphate 33%
• Reporter Gene 33%
• Hypoglycemia 33%
• Intracellular Trafficking 33%
• Gene Expression System 33%
• Heterologous Expression 33%
• Sulfonylurea Receptor 33%
• Glutamate Dehydrogenase 33%