Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.

Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. Hum Mutat. 2020 05; 41(5):884-905.

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subject areas

Congenital Hyperinsulinism
Diabetes Mellitus
Gain of Function Mutation
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Infant, Newborn
Insulin-Secreting Cells
Loss of Function Mutation
Mutation
Potassium Channels, Inwardly Rectifying
Sulfonylurea Receptors

authors with profiles

Siri Atma W. Greeley
Daniela Del Gaudio