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Article

Genetic heterogeneity in familial hyperinsulinism.

Human molecular genetics - 1 Jul 1998

Nestorowicz A, Glaser B, Wilson B A, Shyng S L, Nichols C G, Stanley C A, Thornton P S, Permutt M A

Abstract excerpt

Familial hyperinsulinism (HI) is a disorder characterized by dysregulation of insulin secretion and profound hypoglycemia. Mutations in both the Kir6.2 and sulfonylurea receptor (SUR1) genes have been associated with the autosomal recessive form of this disorder. In this study, the spectrum and frequency of SUR1 mutations in HI and their significance to clinical manifestations of the disease were investigated by...

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Identifiers

PMID: 9618169
DOI: 10.1093/hmg/7.7.1119

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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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