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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2012
Onderwerpen:
Article
Online toegang: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
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items