Article
Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.
Journal of human genetics - 1 Jan 1998
Yamamoto K, Soeda Y, Kamisako T, Hosaka H, Fukano M, Sato H, Fujiyama Y, Adachi Y, Satoh Y, Bamba T
Abstract excerpt
Crigler-Najjar syndrome (CN) type II is caused by a reduction in hepatic bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase activity. Recently, there has been progress in mutation analysis of patients with CN type II. Here, we analyzed both the coding and the promoter regions of the g...
Topics
- Adult
- Aged
- Alleles
- Crigler-Najjar Syndrome
- DNA
- DNA Mutational Analysis
- Exons
- Female
- Gene Frequency
- Genes
- Genes, Dominant
- Genes, Recessive
- Glucuronosyltransferase
- Humans
- Japan
- Male