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Article

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

Gene - 1 Mar 2013

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

Abstract excerpt

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(+...

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Share to ATP-Binding Cassette Transporters
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Insulin-Secreting Cells

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Share to Potassium Channels, Inwardly Rectifying

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Source

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Identifiers

PMID: 23266803
DOI: 10.1016/j.gene.2012.12.055
PMCID: PMC3600632

Genes

ABCC8
KCNJ11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23266803-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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