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

@article{Thomas1995MutationsIT,
  title={Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.},
  author={Paul M Thomas and G. J. Cote and Nelson Wohllk and Bassam Haddad and Puthenpurackal M. Mathew and Wolfgang Rabl and Lydia Aguilar-Bryan and R. F. Gagel and Joseph Bryan},
  journal={Science},
  year={1995},
  volume={268 5209},
  pages={426-9}
}
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 with disease phenotype, were identified in affected individuals from nine different… CONTINUE READING
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