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Article

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.

Science (New York, N.Y.) - 21 Apr 1995

Thomas P M, Cote G J, Wohllk N, Haddad B, Mathew P M, Rabl W, Aguilar-Bryan L, Gagel R F, Bryan J

Abstract excerpt

Familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion, is linked to chromosome 11p14-15.1. The newly cloned high-affinity sulfonylurea receptor (SUR) gene, a regulator of insulin secretion, was mapped to 11p15.1 by means of fluorescence in situ hybridization. Two separate SUR gene splice site mutations, which segregated...

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Identifiers

PMID: 7716548
DOI: 10.1126/science.7716548

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

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Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.PMID 7716548Read ↗

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