Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.

@article{Sagen2004PermanentND,
  title={Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.},
  author={J. Sagen and H. Raeder and E. Hathout and N. Shehadeh and K. Gudmundsson and H. Baevre and D. Abuelo and C. Phornphutkul and J. Molnes and G. Bell and A. Gloyn and A. Hattersley and A. Molven and O. S{\o}vik and P. Nj{\o}lstad},
  journal={Diabetes},
  year={2004},
  volume={53 10},
  pages={
          2713-8
        }
}
Permanent neonatal diabetes (PND) can be caused by mutations in the transcription factors insulin promoter factor (IPF)-1, eukaryotic translation initiation factor-2alpha kinase 3 (EIF2AK3), and forkhead box-P3 and in key components of insulin secretion: glucokinase (GCK) and the ATP-sensitive K(+) channel subunit Kir6.2. We sequenced the gene encoding Kir6.2 (KCNJ11) in 11 probands with GCK-negative PND. Heterozygous mutations were identified in seven probands, causing three novel (F35V, Y330C… Expand
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