Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism

K(ATP) channels regulate insulin secretion from pancreatic β-cells. Loss- and gain-of-function mutations in the genes encoding the Kir6.2 and SUR1 subunits of this channel cause hyperinsulinism of infancy and neonatal diabetes, respectively. We report two novel mutations in the gating loop of Kir6.2...

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Xehetasun bibliografikoak
Egile Nagusiak: Shimomura, Kenju, Flanagan, Sarah E, Zadek, Brittany, Lethby, Mark, Zubcevic, Lejla, Girard, Christophe A J, Petz, Oliver, Mannikko, Roope, Kapoor, Ritika R, Hussain, Khalid, Skae, Mars, Clayton, Peter, Hattersley, Andrew, Ellard, Sian, Ashcroft, Frances M
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: WILEY-VCH Verlag 2009
Gaiak:
Research Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3378123/
https://ncbi.nlm.nih.gov/pubmed/20049716
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/emmm.200900018
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