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Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
Clin Genet. 2015 May;87(5):448-54. doi: 10.1111/cge.12428. Epub 2014 Jun 6.
Clin Genet. 2015.
PMID: 24814349
Free PMC article.
Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels.
Zhou Q, Garin I, Castaño L, Argente J, Muñoz-Calvo MT, Perez de Nanclares G, Shyng SL.
Zhou Q, et al.
J Clin Endocrinol Metab. 2010 Dec;95(12):E473-8. doi: 10.1210/jc.2010-1231. Epub 2010 Sep 1.
J Clin Endocrinol Metab. 2010.
PMID: 20810569
Free PMC article.
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Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure.
Pratt EB, Yan FF, Gay JW, Stanley CA, Shyng SL.
Pratt EB, et al.
J Biol Chem. 2009 Mar 20;284(12):7951-9. doi: 10.1074/jbc.M807012200. Epub 2009 Jan 16.
J Biol Chem. 2009.
PMID: 19151370
Free PMC article.
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