Large deletion in UGT1A1 gene encompassing the promoter and the exon 1 responsible for Crigler-Najjar type I syndrome

Haematologica. 2008 Oct;93(10):1590-1. doi: 10.3324/haematol.13295. Epub 2008 Aug 12.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Base Sequence
  • Crigler-Najjar Syndrome / classification
  • Crigler-Najjar Syndrome / enzymology
  • Crigler-Najjar Syndrome / genetics*
  • Exons / genetics*
  • Gene Deletion*
  • Genetic Markers / genetics
  • Glucuronosyltransferase / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Promoter Regions, Genetic / genetics*

Substances

  • Genetic Markers
  • UGT1A1 enzyme
  • Glucuronosyltransferase