The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation

Diabetologia. 2005 May;48(5):1029-31. doi: 10.1007/s00125-005-1731-5. Epub 2005 Apr 19.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Substitution
  • Base Sequence
  • Blood Glucose / drug effects
  • Blood Glucose / metabolism
  • Carrier State
  • DNA Primers
  • Diabetes Mellitus / drug therapy
  • Diabetes Mellitus / genetics*
  • Humans
  • Hypoglycemic Agents / therapeutic use
  • Infant, Newborn
  • Insulin / pharmacology
  • Male
  • Mutation, Missense*
  • Potassium Channels, Inwardly Rectifying / genetics*
  • Sulfonylurea Compounds / therapeutic use

Substances

  • Blood Glucose
  • DNA Primers
  • Hypoglycemic Agents
  • Insulin
  • Kir6.2 channel
  • Potassium Channels, Inwardly Rectifying
  • Sulfonylurea Compounds