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Article

ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2011

Glaser Benjamin, Blech Ilana, Krakinovsky Yocheved, Ekstein Josef, Gillis David, Mazor-Aronovitch Kineret, Landau Heddy, Abeliovich Dvorah

Abstract excerpt

PURPOSE: Congenital hyperinsulinism of infancy (OMIM# 256450) is a devastating disease most commonly caused by dominant or recessive mutations in either ABCC8 or KCNJ11, the genes that encode for the β-cell adenosine triphosphate-regulated potassium channel. A unique combination of a paternally inherited germline mutation and somatic loss-of-heterozygosity causes the focal form of the disease (Focal-congenital...

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Source

Identifiers

PMID: 21716120
DOI: 10.1097/GIM.0b013e31821fea33

Genes

ABCC8
KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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