Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. [electronic resource]
Producer: 20110523Description: E498-502 p. digitalISSN:- 1945-7197
- 3-Hydroxyacyl CoA Dehydrogenases -- genetics
- Cohort Studies
- Consanguinity
- Diazoxide
- Diuretics
- Female
- Genome-Wide Association Study
- Haplotypes
- Homozygote
- Humans
- Hyperinsulinism -- genetics
- Hypoglycemia -- genetics
- Infant
- Infant, Newborn
- Male
- Microsatellite Repeats
- Mutation -- physiology
- Pedigree
- Polymorphism, Single Nucleotide
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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