Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2

Genomics. 1993 Oct;18(1):171-3. doi: 10.1006/geno.1993.1451.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Crigler-Najjar Syndrome / enzymology
  • Crigler-Najjar Syndrome / genetics*
  • DNA
  • Exons*
  • Glucuronosyltransferase / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*

Substances

  • bilirubin glucuronoside glucuronosyltransferase
  • DNA
  • Glucuronosyltransferase