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...

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Detalles Bibliográficos
Autores principales: Flanagan, Sarah E., Dũng, Vũ Chí, Houghton, Jayne A. L., De Franco, Elisa, Ngoc, Can Thi Bich, Damhuis, Annet, Ashcroft, Frances M., Harries, Lorna W., Ellard, Sian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2017
Materias:
Short Communication
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

Internet

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

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