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...
| Hlavní autoři: | , , , , , , , , |
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| Médium: | Journal article |
| Jazyk: | English |
| Vydáno: |
Galenos Publishing House
2017
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