Article
Molecular genetic basis of Gilbert's syndrome.
Journal of gastroenterology and hepatology - 1 Oct 1999
Burchell B, Hume R
Abstract excerpt
Gilbert's syndrome, an hereditary, chronic, mild, unconjugated hyperbilirubinaemia resulting from impaired hepatic bilirubin clearance and otherwise normal liver function, is arguably the most common syndrome known in humans. Recent molecular genetic studies have determined that the clinical phenotype can be described by a dinucleotide polymorphism in the TATA box promoter of the bilirubin uridine...
Topics
- Genotype
- Gilbert Disease
- Glucuronides
- Glucuronosyltransferase
- Heterozygote
- Humans
- Hyperbilirubinemia
- Inactivation, Metabolic
- Infant, Newborn
- Jaundice, Neonatal
- Male
- Pedigree
