title: Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene.
abstract: We report a case of Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of the bilirubin UDP-glucuronosyltransferase gene. Homozygous missense mutations of the gene have previously been recognized as responsible for Crigler-Najjar syndrome type II. We conclude that Gilbert syndrome in some patients results from homozygous missense mutations of the UDP-glucuronosyltransferase gene.
authors.affiliation: Department of Pediatrics, Shiga University of Medical Science, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Maruo
authors.forename: H
authors.initials: H
authors.lastname: Sato
authors.forename: T
authors.initials: T
authors.lastname: Yamano
authors.forename: Y
authors.initials: Y
authors.lastname: Doida
authors.forename: M
authors.initials: M
authors.lastname: Shimada
mesh_terms: D002648:Child; D005091:Exons / Q000235:genetics; D005260:Female; D005878:Gilbert Disease / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D014453:Glucuronosyltransferase