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A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler-Najjar syndrome type II.

AuthorsC S Huang, G A Luo, M J Huang, E S Chen, T H Young, Y C Chao
JournalPharmacogenetics (Pharmacogenetics) Vol. 11 Issue 7 Pg. 639-42 (Oct 2001) ISSN: 0960-314X [Print] England
PMID11668224 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • UGT1A1 enzyme
  • Glucuronosyltransferase
Topics
  • Adult
  • Amino Acid Sequence
  • Amino Acid Substitution (genetics)
  • Base Sequence
  • Crigler-Najjar Syndrome (classification, enzymology, genetics)
  • Frameshift Mutation
  • Genetic Carrier Screening
  • Genetic Variation (genetics)
  • Glucuronosyltransferase (genetics)
  • Humans
  • Male
  • Molecular Sequence Data

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