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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 β-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: Our o...

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Bibliografische gegevens
Gepubliceerd in:J Clin Endocrinol Metab
Hoofdauteurs: Edghill, Emma L., Gloyn, Anna L., Goriely, Anne, Harries, Lorna W., Flanagan, Sarah E., Rankin, Julia, Hattersley, Andrew T., Ellard, Sian
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2007
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7611879/
https://ncbi.nlm.nih.gov/pubmed/17327377
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2006-2817
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