Article
Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.
The Journal of clinical investigation - 1 Dec 1994
Seppen J, Bosma P J, Goldhoorn B G, Bakker C T, Chowdhury J R, Chowdhury N R, Jansen P L, Oude Elferink R P
Abstract excerpt
Crigler-Najjar (CN) disease is classified into two subtypes, type I and II. The molecular basis for the difference between these types is not well understood. Several mutations in the bilirubin UDP-glucuronosyl-transferase (B-UGT) gene of six CN type I and two CN type II patients were identified....
Topics
- Adolescent
- Animals
- Bilirubin
- Cells, Cultured
- Child
- Child, Preschool
- Crigler-Najjar Syndrome
- Enzyme-Linked Immunosorbent Assay
- Female
- Glucuronosyltransferase
- Humans
- Infant
- Male
- Microsomes, Liver