Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.
Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59...
| Main Authors: | , , |
|---|---|
| פורמט: | Journal article |
| שפה: | English |
| יצא לאור: |
2005
|