Ruth Shemer Carmit Avnon Ziv Efrat Laiba Qing Zhou Joel Gay Sharona Tunovsky-Babaey Show-Ling Shyng Benjamin Glaser David H Zangen
10.2337/db11-0984
Diabetes
2012 Jan;61(1):258-63.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/22106158/
ATP-Binding Cassette Transporters / genetics Congenital Hyperinsulinism / genetics Potassium Channels, Inwardly Rectifying / genetics Receptors, Drug / genetics
ATP-Binding Cassette Transporters / genetics Congenital Hyperinsulinism / genetics Potassium Channels, Inwardly Rectifying / genetics Receptors, Drug / genetics Case Reports Research Support, N.I.H., Extramural Alleles Base Sequence Female Gene Expression Regulation Genes, Dominant Genetic Association Studies Humans Infant, Newborn Molecular Sequence Data Pedigree Phenotype Sulfonylurea Receptors ABCC8 protein, human ATP-Binding Cassette Transporters Potassium Channels, Inwardly Rectifying Receptors, Drug Sulfonylurea Receptors
PMC3237658
22106158
Relative expression of a dominant mutated ABCC8 allele determines the clinical manifestation of congenital hyperinsulinism
2012