A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type 1

J Pediatr Gastroenterol Nutr. 2003 Nov;37(5):627-30. doi: 10.1097/00005176-200311000-00024.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Conserved Sequence
  • Crigler-Najjar Syndrome / enzymology*
  • Exons
  • Female
  • Glucuronosyltransferase / genetics*
  • Homozygote
  • Humans
  • Infant
  • Molecular Sequence Data
  • Mutation, Missense*
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic / genetics
  • TATA Box
  • Turkey

Substances

  • bilirubin glucuronoside glucuronosyltransferase
  • UGT1A1 enzyme
  • Glucuronosyltransferase