An In-Frame Deletion in Kir6.2 (KCNJ11) Causing Neonatal Diabetes Reveals a Site of Interaction between Kir6.2 and SUR1

CONTEXT: Activating mutations in genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the pancreatic ATP-sensitive K(+) channel are a common cause of permanent neonatal diabetes (PNDM). All Kir6.2 mutations identified to date are missense mutations. We describe here a novel in-frame delet...

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Publicado no:J Clin Endocrinol Metab
Main Authors: Craig, Tim J., Shimomura, Kenju, Holl, Reinhard W., Flanagan, Sarah E., Ellard, Sian, Ashcroft, Frances M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7611921/
https://ncbi.nlm.nih.gov/pubmed/19351728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2009-0159
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