Article
KCNJ11 in-frame 15-bp deletion leading to glibenclamide-responsive neonatal diabetes mellitus in a Chinese child.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2013
Yang Wenli, Wei Huiqin, Sang Yanmei
Abstract excerpt
The ATP-sensitive K+ channel controls insulin secretion from the islet. Mutations in KCNJ11 can cause permanent and transient neonatal diabetes. To date, more than 30 KCNJ11 mutations have been revealed as related to the onset of neonatal diabetes mellitus (NDM), most of which are responsive to glibenclamide treatment. In the present study, we sequenced the KCNJ11 gene in a Chinese girl diagnosed with NDM and in...
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