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Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism

1 Jun 2009

Abstract excerpt

K(ATP) channels regulate insulin secretion from pancreatic beta-cells. Loss- and gain-of-function mutations in the genes encoding the Kir6.2 and SUR1 subunits of this channel cause hyperinsulinism of infancy and neonatal diabetes, respectively. We report two novel mutations in the gating loop of Kir6.2 which cause neonatal diabetes with developmental delay (T293N) and hyperinsulinism (T294M). These mutations...

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PMID: 20049716
DOI: 10.1002/emmm.200900018

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Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinismPMID 20049716Read ↗

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