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Neonatal Diabetes Caused by Activating Mutations in the Sulphonylurea Receptor

1 Jan 2013

Abstract excerpt

Adenosine triphosphate (ATP)-sensitive potassium (KATP) channels in pancreatic β-cells play a crucial role in insulin secretion and glucose homeostasis. These channels are composed of two subunits: a pore-forming subunit (Kir6.2) and a regulatory subunit (sulphonylurea receptor-1). Recent studies identified large number of gain of function mutations in the regulatory subunit of the channel which cause neonatal...

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PMID: 23807917
DOI: 10.4093/dmj.2013.37.3.157

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