An ABCC8 nonsense mutation causing neonatal diabetes through altered transcript expression

The pancreatic ATP-sensitive K+ (K-ATP) channel is a key regulator of insulin secretion. Gain-of-function mutations in the genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the channel cause neonatal diabetes, whilst loss-of-function mutations in these genes result in congenital hyperi...

詳細記述

書誌詳細
主要な著者: Flanagan, SE, Dũng, VC, Houghton, JAL, De Franco, E, Ngoc, CTB, Damhuis, A, Ashcroft, FM, Harries, LW, Ellard, S
フォーマット: Journal article
言語:English
出版事項: Galenos Publishing House 2017