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.

Kadakol, A

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