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Article

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.

Journal of medical genetics - 1 Nov 2010

Bellanné-Chantelot C, Saint-Martin C, Ribeiro M-J, Vaury C, Verkarre V, Arnoux J-B, Valayannopoulos V, Gobrecht S, Sempoux C, Rahier J, Fournet J-C, Jaubert F, Aigrain Y, Nihoul-Fékété C, de Lonlay P

Abstract excerpt

BACKGROUND: Congenital hyperinsulinism (CHI) is characterised by an over secretion of insulin by the pancreatic β-cells. This condition is mostly caused by mutations in ABCC8 or KCNJ11 genes encoding the SUR1 and KIR6.2 subunits of the ATP-sensitive potassium (K(ATP)) channel. CHI patients are classified according to their responsiveness to diazoxide and to their histopathological diagnosis (either focal, diffuse...

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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 Potassium Channels, Inwardly Rectifying

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Source

Identifiers

PMID: 20685672
DOI: 10.1136/jmg.2009.075416

Genes

ABCC8
KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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