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Article

Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

The Journal of clinical endocrinology and metabolism - 1 Feb 2005

Henwood Maria J, Kelly Andrea, Macmullen Courtney, Bhatia Pooja, Ganguly Arupa, Thornton Paul S, Stanley Charles A

Abstract excerpt

Congenital hyperinsulinism (HI) is most commonly caused by recessive mutations of the pancreatic beta-cell ATP-sensitive potassium channel (K(ATP)), encoded by two genes on chromosome 11p, SUR1 and Kir6.2. The two mutations that have been best studied, SUR1 g3992-9a and SUR1 delF1388, are null mutations yielding nonfunctional channels and are characterized by nonresponsiveness to diazoxide, a channel agonist, and...

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Source

Identifiers

PMID: 15562009
DOI: 10.1210/jc.2004-1604

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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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