Article
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1.
Lancet (London, England) - 25 Jan 2003
Huopio Hanna, Otonkoski Timo, Vauhkonen Ilkka, Reimann Frank, Ashcroft Frances M, Laakso Markku
Abstract excerpt
BACKGROUND: ATP-sensitive potassium (KATP) channels are major regulators of glucose-induced insulin secretion in pancreatic beta cells. We have described a dominant heterozygous mutation--E1506K--in the sulfonylurea receptor 1 (SUR1) gene (ABCC8) in a Finnish family, which leads to congenital hyperinsulinaemia due to reduction of K(ATP)-channel activity. We aimed to characterise glucose metabolism in adults...
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