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.
Klupa
T
T
Edghill
E L
EL
Nazim
J
J
Sieradzki
J
J
Ellard
S
S
Hattersley
A T
AT
Malecki
M T
MT
D019943:Amino Acid Substitution; D001483:Base Sequence; D001786:Blood Glucose / Q000187:drug effects / Q000378:metabolism; D002353:Carrier State; D017931:DNA Primers; D003920:Diabetes Mellitus / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007231:Infant, Newborn; D007328:Insulin / Q000494:pharmacology; D008297:Male; D020125:Mutation, Missense; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D013453:Sulfonylurea Compounds / Q000627:therapeutic use; D000099161:Kcnj11 Channel
D001786:Blood Glucose; D017931:DNA Primers; D007004:Hypoglycemic Agents; D007328:Insulin; D024661:Potassium Channels, Inwardly Rectifying; D013453:Sulfonylurea Compounds; D000099161:Kcnj11 Channel