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Article

Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

Human mutation - 1 Feb 2006

Fernández-Marmiesse Ana, Salas Antonio, Vega Ana, Fernández-Lorenzo José Ramón, Barreiro Jesús, Carracedo Angel

Abstract excerpt

Hyperinsulinism of Infancy (HI) is a clinical disorder characterized by deregulation of insulin secretion that leads to profound hypoglycemia. Mutations in genes encoding the ATP-regulated potassium channels of the pancreatic beta-cell, namely ABCC8 (SUR1) and KCNJ11 (Kir6.2), are the major genetic known cause of the disease. To elucidate the genetic etiology of HI in the uncharacterized Spanish population, we...

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Share to Mutation, Missense
Share to ATP-Binding Cassette Transporters

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Congenital Hyperinsulinism

Share to Potassium Channels

Share to Potassium Channels, Inwardly Rectifying

Share to Receptors, Drug

Share to Sulfonylurea Receptors

Source

Identifiers

PMID: 16429405
DOI: 10.1002/humu.9401

Genes

ABCC8
KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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