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Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus
AIMS/INTRODUCTION: The adenosine triphosphate (ATP)‐sensitive potassium (K(ATP)) channel is a key component of insulin secretion in pancreatic β‐cells. Activating mutations in ABCC8 encoding for the sulfonylurea receptor subunit of the K(ATP) channel have been associated with the development of neon...
Autores principales: | , , , , , , , , , , , , , |
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格式: | Online 文件 Texto |
语言: | English |
出版: |
Wiley-Blackwell
2013
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主题: | |
在线阅读: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015663/ https://www.ncbi.nlm.nih.gov/pubmed/24843665 http://dx.doi.org/10.1111/jdi.12049 |