Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome

The Lancet

Volumn 345, Issue 8955, 1995, Pages 958-959

  Aono, S ^a   Keino, H ^a   Yamada, Y ^a   Adachi, Y ^b   Nanno, T ^b   Uyama, E ^c   Koiwai, O ^d   Sato, H ^e  

^a INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^b KINKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

^d AICHI CANCER CENTER HOSPITAL   (Japan)

^e SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; GLUCURONOSYLTRANSFERASE;

ADULT; ARTICLE; BILIRUBIN METABOLISM; CLINICAL ARTICLE; CRIGLER NAJJAR SYNDROME; FEMALE; GENE SEQUENCE; GILBERT DISEASE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERBILIRUBINEMIA; MALE; NORMAL HUMAN; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL;

EID: 0028904620     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(95)90702-5     Document Type: Article

References (10)

1. Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells
2. A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini
3. Sequence of exons and the flanking regions of human bilirubin-UDP-glucuronosyl- transferase gene complex with identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I
4. Identification of a genetic alteration in the code for bilirubin UDP-glucruronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type 1 patient.
5. Identifiation of defect in the genes of bilirubin UDP-glucruronosyltransferase in a patient with Crigler-Najjar syndrome type II
6. Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2
7. A new type of defect in the gene for bilirubin uridine 5'-diphosophate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I
8. Assay and digitonin-activated bilirubin uridine diphosphate glucuronyltransferase from rat liver
9. The molecular weights of UDP-glucuronyltransferase determined with radiation-inactivation analysis
10. The molecular basis of genetic dominance