Crigler–Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene

This publication has 14 references indexed in Scilit:

• Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome
  Human Mutation, 2002
• Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus
  Journal of Medical Genetics, 2001
• Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: Correlation of genotype to phenotype
  Human Mutation, 2000
• A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP‐glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler‐Najjar type IIs
  FEBS Letters, 1996
• Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.
  Journal of Clinical Investigation, 1994
• Identification of Defect in the Genes for Bilirubin UDP-Glucuronosyltransferase in a Patient with Crigler-Najjar Syndrome Type II
  Biochemical and Biophysical Research Communications, 1993
• Identification of an A-to-G Missense Mutation in Exon 2 of the UGT1 Gene Complex That Causes Crigler-Najjar Syndrome Type 2
  Genomics, 1993
• Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient.
  Journal of Clinical Investigation, 1992
• Sequence of Exons and the Flanking Regions of Human Bilirubin–Udp–Glucuronosyltransferase Gene Complex and Identification of A Genetic Mutation in A Patient With Crigler–Najjar Syndrome, Type I
  Hepatology, 1992
• Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency
  The American Journal of Medicine, 1969