A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications

AIMS/HYPOTHESIS: Heterozygous activating mutations in the pancreatic ATP-sensitive K(+) channel cause permanent neonatal diabetes mellitus (PNDM). This results from a decrease in the ability of ATP to close the channel, which thereby suppresses insulin secretion. PNDM mutations that cause a severe r...

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Detalles Bibliográficos
Autores principales: Tammaro, P., Flanagan, S. E., Zadek, B., Srinivasan, S., Woodhead, H., Hameed, S., Klimes, I., Hattersley, A. T., Ellard, S., Ashcroft, F. M.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2008
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2292422/
https://www.ncbi.nlm.nih.gov/pubmed/18335204
http://dx.doi.org/10.1007/s00125-008-0923-1

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