Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I

J Pediatr Gastroenterol Nutr. 2008 Mar;46(3):308-11. doi: 10.1097/MPG.0b013e3181638c8b.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Blotting, Western
  • COS Cells
  • Child, Preschool
  • Chlorocebus aethiops
  • Codon
  • Crigler-Najjar Syndrome / classification
  • Crigler-Najjar Syndrome / genetics*
  • Female
  • Gene Expression
  • Glucuronosyltransferase / chemistry*
  • Glucuronosyltransferase / genetics*
  • Glucuronosyltransferase / metabolism
  • Humans
  • Mutation, Missense*
  • Point Mutation
  • Polymorphism, Genetic
  • Protein Conformation
  • Sequence Deletion

Substances

  • Codon
  • UGT1A1 enzyme
  • Glucuronosyltransferase