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Article

Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies.

Clinical endocrinology - 1 Jul 2007

Muzyamba Morris, Farzaneh Tabasum, Behe Phillip, Thomas Alison, Christesen Henrik B T, Brusgaard Klaus, Hussain Khalid, Tinker Andrew

Abstract excerpt

OBJECTIVE: Congenital hyperinsulinism (CHI) is a cause of persistent and severe hypoglycaemia in infancy. Mutations in the genes ABCC8 and KCNJ11 encoding SUR1 and Kir6.2, respectively, are the commonest cause of CHI. We investigated whether the possession of two DNA variants leading to coding changes in a single allele of ABCC8 can affect the potential mechanism of disease pathogenesis. DESIGN AND PATIENTS: We...

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Source

Identifiers

PMID: 17466004
DOI: 10.1111/j.1365-2265.2007.02847.x

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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