A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1.

@article{Huopio2003ANS,
  title={A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1.},
  author={Hanna Huopio and Timo Otonkoski and Ilkka Vauhkonen and Frank Reimann and Frances M. Ashcroft and Markku Laakso},
  journal={Lancet},
  year={2003},
  volume={361 9354},
  pages={301-7}
}
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 heterozygous for the E1506K mutation. METHODS Glucose tolerance was assessed by an oral… CONTINUE READING
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