Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.

Podobné jednotky

• 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.
  Autor: Flanagan, SE, a další
  Vydáno: (2006)
• Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.
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  Vydáno: (2004)
• KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
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• Relapsing diabetes can result from moderately activating mutations in KCNJ11.
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• Neonatal diabetes caused by homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensititvity markedly affect diabetes risk
  Autor: Vedovato, N, a další
  Vydáno: (2016)