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A Mouse Model of Human Hyperinsulinism Produced by the E1506K Mutation in the Sulphonylurea Receptor SUR1

Loss-of-function mutations in the K(ATP) channel genes KCNJ11 and ABCC8 cause neonatal hyperinsulinism in humans. Dominantly inherited mutations cause less severe disease, which may progress to glucose intolerance and diabetes in later life (e.g., SUR1-E1506K). We generated a mouse expressing SUR1-E...

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Detalles Bibliográficos
Autores principales: Shimomura, Kenju, Tusa, Maija, Iberl, Michaela, Brereton, Melissa F., Kaizik, Stephan, Proks, Peter, Lahmann, Carolina, Yaluri, Nagendra, Modi, Shalem, Huopio, Hanna, Ustinov, Jarkko, Otonkoski, Timo, Laakso, Markku, Ashcroft, Frances M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Diabetes Association 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806602/
https://www.ncbi.nlm.nih.gov/pubmed/23903354
http://dx.doi.org/10.2337/db12-1611