Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome

Hum Mutat. 2002 Nov;20(5):399-401. doi: 10.1002/humu.10122.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Base Sequence
  • Child
  • Crigler-Najjar Syndrome / diagnosis
  • Crigler-Najjar Syndrome / genetics*
  • Female
  • Glucuronosyltransferase / genetics*
  • Homozygote
  • Humans
  • Point Mutation*
  • Polymorphism, Genetic*
  • TATA Box*

Substances

  • UGT1A1 enzyme
  • Glucuronosyltransferase

Associated data

  • OMIM/143500