Three Japanese patients with Crigler-Najjar syndrome type I carry an identical nonsense mutation in the gene for UDP-glucuronosyltransferase
- 1 September 1995
- journal article
- research article
- Published by Springer Nature in Journal of Human Genetics
- Vol. 40 (3) , 253-257
- https://doi.org/10.1007/bf01876183
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
- A New Type of Defect in the Gene for Bilirubin Uridine 5 '-Diphosphate-Glucuronosyltransferase in a Patient with Crigler-Najjar Syndrome Type IPediatric Research, 1994
- Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.Journal of Clinical Investigation, 1994
- Human UDP‐glucuronosyl transferases: Chemical defence, jaundice and gene therapyBioEssays, 1993
- Assignment of the human UDP glucuronosyltransferase gene (UGT1A1) to chromosome region 2q37Cytogenetic and Genome Research, 1993
- Mechanisms of inherited deficiencies of multiple UDP‐glucuronosyltransferase isoforms in two patients with Crigler‐Najjar syndrome, type IThe FASEB Journal, 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 IHepatology, 1992
- Isolation and sequencing of rat liver bilirubin UDP-glucuronosyltransferase cDNA: Possible alternate splicing of a common primary transcriptBiochemical and Biophysical Research Communications, 1990
- Crigler-Najjar Syndrome (Type I) in an Adult MaleGastroenterology, 1979
- Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiencyThe American Journal of Medicine, 1969
- Determination of bilirubin glucuronide and assay of glucuronyltransferase with bilirubin as acceptorBiochemical Journal, 1968