Crigler-Najjar syndrome type II in a caucasian patient resulting from two mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene.
Kraemer
Doris
D
Klinker
Hartwig
H
D000328:Adult; D001483:Base Sequence; D003414:Crigler-Najjar Syndrome / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D044465:White People; D000099148:UGT1A1 Enzyme
D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme