Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms

ATP-sensitive potassium (K(ATP)) channels regulate insulin secretion from pancreatic beta-cells. Gain-of-function mutations in the genes encoding the Kir6.2 and SUR1 subunits of this channel cause neonatal diabetes. We report two novel mutations on the same haplotype (cis), F60Y and V64L, in the sli...

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Hauptverfasser: Männikkö, Roope, Jefferies, Craig, Flanagan, Sarah E., Hattersley, Andrew, Ellard, Sian, Ashcroft, Frances M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2010
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2830823/
https://ncbi.nlm.nih.gov/pubmed/20022885
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp554
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