Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.
ATP-sensitive potassium (K(ATP)) channels regulate insulin secretion from pancreatic beta-cells. Gain-of-function mutations in the genes encoding the Kir6.2 and SUR1 subunits of this channel cause neonatal diabetes. We report two novel mutations on the same haplotype (cis), F60Y and V64L, in the sli...
| Main Authors: | , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2010
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