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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 hype...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Galenos Publishing
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596808/ https://www.ncbi.nlm.nih.gov/pubmed/28663158 http://dx.doi.org/10.4274/jcrpe.4624 |