An ABCC8 nonsense mutation causing neonatal diabetes through altered transcript expression

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...

Disgrifiad llawn

Manylion Llyfryddiaeth
Prif Awduron:	Flanagan, SE, Dũng, VC, Houghton, JAL, De Franco, E, Ngoc, CTB, Damhuis, A, Ashcroft, FM, Harries, LW, Ellard, S
Fformat:	Journal article
Iaith:	English
Cyhoeddwyd:	Galenos Publishing House 2017

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