טוען...
The G53D Mutation in Kir6.2 (KCNJ11) Is Associated with Neonatal Diabetes and Motor Dysfunction in Adulthood that Is Improved with Sulfonylurea Therapy
Context: Mutations in the Kir6.2 subunit (KCNJ11) of the ATP-sensitive potassium channel (K(ATP)) underlie neonatal diabetes mellitus. In severe cases, Kir6.2 mutations underlie developmental delay, epilepsy, and neonatal diabetes (DEND). All Kir6.2 mutations examined decrease the ATP inhibition of...
שמור ב:
| Main Authors: | , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
The Endocrine Society
2008
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2266958/ https://ncbi.nlm.nih.gov/pubmed/18073297 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2007-1826 |
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