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

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

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 Kir...

Full description

Bibliographic Details
Main Authors: Shimomura, K, Flanagan, SE, Zadek, B, Lethby, M, Zubcevic, L, Girard, C, Petz, O, Mannikko, R, Kapoor, R, Hussain, K, Skae, M, Clayton, P, Hattersley, A, Ellard, S, Ashcroft, F
Format: Journal article
Language:English
Published: 2009

Similar Items