Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.

CONTEXT: Activating mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the pancreatic beta-cell K(ATP) channel, result in permanent and transient neonatal diabetes. The majority of KCNJ11 mutations are spontaneous, but the parental origin of these mutations is not known. OBJECTIVE: O...

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Bibliographic Details
Main Authors: Edghill, E, Gloyn, A, Goriely, A, Harries, L, Flanagan, SE, Rankin, J, Hattersley, A, Ellard, S
Format: Journal article
Language:English
Published: 2007