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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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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	WILEY-VCH Verlag 2009
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3378123/ https://www.ncbi.nlm.nih.gov/pubmed/20049716 http://dx.doi.org/10.1002/emmm.200900018

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