Article
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome.
The New England journal of medicine - 2 Nov 1995
Bosma P J, Chowdhury J R, Bakker C, Gantla S, de Boer A, Oostra B A, Lindhout D, Tytgat G N, Jansen P L, Oude Elferink R P
Abstract excerpt
BACKGROUND: People with Gilbert's syndrome have mild, chronic unconjugated hyperbilirubinemia in the absence of liver disease or overt hemolysis. Hepatic glucuronidating activity, essential for efficient biliary excretion of bilirubin, is reduced to about 30 percent of normal. METHODS: We sequenced the coding and promoter regions of the gene for bilirubin UDP-glucuronosyltransferase 1 (bilirubin/uridine...
Topics
- Adolescent
- Adult
- Base Sequence
- Case-Control Studies
- Crigler-Najjar Syndrome
- Female
- Gene Expression Regulation, Enzymologic
- Gilbert Disease
- Glucuronosyltransferase
- Homozygote