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...
Topics
- ATP-Binding Cassette Transporters
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 11
- DNA Mutational Analysis
- DNA, Complementary
- Genotype
- Humans
- Hyperinsulinism
- Hypoglycemia
- Infant
- Insulin
- Insulin Secretion
- Molecular Sequence Data