KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

Схожі ресурси

• Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.
  за авторством: Edghill, E, та інші
  Опубліковано: (2007)
• 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.
  за авторством: Flanagan, SE, та інші
  Опубліковано: (2006)
• Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
  за авторством: Flanagan, SE, та інші
  Опубліковано: (2009)
• 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.
  за авторством: Gloyn, A, та інші
  Опубліковано: (2004)
• Relapsing diabetes can result from moderately activating mutations in KCNJ11.
  за авторством: Gloyn, A, та інші
  Опубліковано: (2005)