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Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype
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Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia 2006; 49: 1190-1197.
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Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood
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Relapsing diabetes can result from moderately activating mutations in KCNJ11
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Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: Patient characteristics and initial response to sulfonylurea therapy
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A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome
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Proks P, Girard C, Haider S, Gloyn AL, Hattersley AT, Sansom SP et al. A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome. EMBO Rep 2005; 6: 470-475.
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Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients
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Insulin Mutation Screening in 1044 Patients with Diabetes: Mutations in the INS gene are a Common Cause of Neonatal Diabetes but a Rarer Cause of Diabetes Diagnosed in Childhood or Adulthood
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Electrophysiology of the pancreatic b-cell
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