Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus

J Med Genet. 2001 Apr;38(4):244-9. doi: 10.1136/jmg.38.4.244.
No abstract available

Publication types

  • Letter
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Animals
  • Base Sequence
  • Blotting, Western
  • COS Cells
  • Codon / genetics*
  • Crigler-Najjar Syndrome / genetics
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Gilbert Disease / genetics
  • Glucuronosyltransferase / genetics*
  • Glucuronosyltransferase / metabolism
  • Humans
  • Infant
  • Infant, Newborn
  • Jaundice, Neonatal / genetics*
  • Kernicterus / genetics*
  • Male
  • Mutation
  • Mutation, Missense
  • Plasmids / genetics
  • Promoter Regions, Genetic / genetics*

Substances

  • Codon
  • DNA
  • UGT1A1 enzyme
  • Glucuronosyltransferase