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...
| Autores principales: | , , |
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| Formato: | Journal article |
| Lenguaje: | English |
| Publicado: |
2005
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