Article
The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.
Clinical genetics - 1 May 2009
Sandal T, Laborie L B, Brusgaard K, Eide S A, Christesen H B T, Søvik O, Njølstad P R, Molven A
Abstract excerpt
Potassium channels in the plasma membrane of the pancreatic beta cells are critical in maintaining glucose homeostasis by responding to ATP and coupling metabolic changes to insulin secretion. These channels consist of subunits denoted the sulfonylurea receptor SUR1 and the inwardly rectifying ion channel KIR6.2, which are encoded by the genes ABCC8 and KCNJ11, respectively. Activating mutations in the subunit...
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