Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient.

Eitemau Tebyg

• Truncated UDP-glucuronosyltransferase (UGT) from a Crigler–Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum
  gan: Suzuki, Masahiro, et al.
  Cyhoeddwyd: (2014)
• Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II
  gan: Iijima, Shigeo, et al.
  Cyhoeddwyd: (2011)
• Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.
  gan: Seppen, J, et al.
  Cyhoeddwyd: (1994)
• Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene
  gan: IOLASCON, A., et al.
  Cyhoeddwyd: (2000)
• Correction of the UDP-glucuronosyltransferase gene defect in the Gunn rat model of Crigler–Najjar syndrome type I with a chimeric oligonucleotide
  gan: Kren, Betsy T., et al.
  Cyhoeddwyd: (1999)