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Article

Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

Human molecular genetics - 1 Nov 1996

Nestorowicz A, Wilson B A, Schoor K P, Inoue H, Glaser B, Landau H, Stanley C A, Thornton P S, Clement J P, Bryan J, Aguilar-Bryan L, Permutt M A

Abstract excerpt

Familial hyperinsulinism (HI) is a disorder of pancreatic beta-cell function characterized by persistent hyperinsulinism despite severe hypoglycemia. To define the molecular genetic basis of HI in Ashkenazi Jews, 25 probands were screened for mutations in the sulfonylurea receptor (SUR1) gene by single-strand conformation polymorphism (SSCP) analysis of genomic DNA and subsequent nucleotide sequence analyses. Two...

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Identifiers

PMID: 8923011
DOI: 10.1093/hmg/5.11.1813

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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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