Genetic & Genomic MedicineNature GeneticsPeer-reviewed
A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling HK1
Matthew Neil Wakeling, Nick D. L. Owens, Jessica R. Hopkinson…·Sarah Elizabeth Flanagan
The paper identifies non-coding mutations in a regulatory element of HK1 that lead to inappropriate expression in pancreatic beta-cells and cause congenital hyperinsulinism.
66 citationstop 1%