Article
Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.
Diabetes - 1 Jan 2008
Shield Julian P H, Flanagan Sarah E, Mackay Deborah J, Harries Lorna W, Proks Peter, Girard Christophe, Ashcroft Frances M, Temple I Karen, Ellard Sian
Abstract excerpt
OBJECTIVE: Activating mutations in the KCNJ11 and ABCC8 genes encoding the Kir6.2 and SUR1 subunits of the pancreatic ATP-sensitive K(+) channel are the most common cause of permanent neonatal diabetes. In contrast to KCNJ11, where only dominant heterozygous mutations have been identified, recessively acting ABCC8 mutations have recently been found in some patients with neonatal diabetes. These genes are...
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