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]
Producer: 20011025Description: 244-9 p. digitalISSN:- 1468-6244
- 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
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Publication Type: Letter; Research Support, U.S. Gov't, P.H.S.
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