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Three Japanese patients with Crigler-Najjar syndrome type I carry an identical nonsense mutation in the gene for UDP-glucuronosyltransferase.

AuthorsO Koiwai, Y Yasui, K Hasada, S Aono, H Sato, M Fujikake, T Aoki
JournalThe Japanese journal of human genetics (Jpn J Hum Genet) Vol. 40 Issue 3 Pg. 253-7 (Sep 1995) ISSN: 0916-8478 [Print] Japan
PMID8527799 (Publication Type: Journal Article)
Chemical References
  • Glucuronosyltransferase
  • Bilirubin
Topics
  • Adolescent
  • Amino Acid Sequence
  • Base Sequence
  • Bilirubin (metabolism)
  • Child
  • Consanguinity
  • Crigler-Najjar Syndrome (enzymology, genetics)
  • Exons (genetics)
  • Female
  • Glucuronosyltransferase (genetics)
  • Humans
  • Japan
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation

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