Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus. [electronic resource]
- Journal of medical genetics Apr 2001
- 244-9 p. digital
Publication Type: Letter; Research Support, U.S. Gov't, P.H.S.
1468-6244
10.1136/jmg.38.4.244 doi
Adult Animals Base Sequence Blotting, Western COS Cells Codon--genetics Crigler-Najjar Syndrome--genetics DNA--chemistry DNA Mutational Analysis Female Gilbert Disease--genetics Glucuronosyltransferase--genetics Humans Infant Infant, Newborn Jaundice, Neonatal--genetics Kernicterus--genetics Male Mutation Mutation, Missense Plasmids--genetics Promoter Regions, Genetic--genetics