Article
Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations in ABCC8.
Human molecular genetics - 15 Sept 2015
Nessa Azizun, Aziz Qadeer H, Thomas Alison M, Harmer Stephen C, Tinker Andrew, Hussain Khalid
Abstract excerpt
Congenital Hyperinsulinism (CHI) is a rare heterogeneous disease characterized by unregulated insulin secretion. Dominant mutations in ABCC8 causing medically unresponsive CHI have been reported; however, the molecular mechanisms are not clear. The molecular basis of medically unresponsive CHI due to dominant ABCC8 mutations has been studied in 10 patients, who were medically unresponsive to diazoxide (DZX), and...
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