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Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene.

AuthorsA Iolascon, A Meloni, B Coppola, M C Rosatelli
JournalJournal of medical genetics (J Med Genet) Vol. 37 Issue 9 Pg. 712-3 (Sep 2000) ISSN: 1468-6244 [Electronic] England
PMID11182932 (Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • DNA
  • Glucuronosyltransferase
  • Bilirubin
Topics
  • Adolescent
  • Amino Acid Substitution
  • Bilirubin (blood)
  • Crigler-Najjar Syndrome (enzymology, genetics, pathology)
  • DNA (chemistry, genetics)
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Glucuronosyltransferase (genetics)
  • Humans
  • Male
  • Mutation
  • Point Mutation
  • Polymorphism, Genetic
  • Promoter Regions, Genetic
  • Sequence Deletion

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