Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations

Congenital hyperinsulinism (CHI) occurs as a consequence of unregulated insulin secretion from the pancreatic beta-cells. Severe recessive mutations and milder dominant mutations have been described in the ABCC8 and KCNJ11 genes encoding SUR1 and Kir6.2 subunits of the beta-cell ATP-sensitive K(+) c...

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Main Authors: Faletra, Flavio, Snider, Kara, Shyng, Show-Ling, Bruno, Irene, Athanasakis, Emmanouil, Gasparini, Paolo, Dionisi-Vici, Carlo, Ventura, Alessandro, Zhou, Qing, Stanley, Charles A., Burlina, Alberto
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3600632/
https://ncbi.nlm.nih.gov/pubmed/23266803
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2012.12.055
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