Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis

Antzeko izenburuak

• Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene
  nork: IOLASCON, A., et al.
  Argitaratua: (2000)
• Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.
  nork: Seppen, J, et al.
  Argitaratua: (1994)
• Immunochemical analysis of uridine diphosphate-glucuronosyltransferase in four patients with the Crigler-Najjar syndrome type I.
  nork: van Es, H H, et al.
  Argitaratua: (1990)
• Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient.
  nork: Ritter, J K, et al.
  Argitaratua: (1992)
• Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.
  nork: Lufeng Li, et al.
  Argitaratua: (2015-01-01)