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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2012
Pynciau:
Article
Mynediad Ar-lein: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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