title: Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.
abstract: The aim of this study was to identify new pathogenic variations of the UGT1A1 gene in 11 patients diagnosed with neonatal unconjugated hyperbilirubinemia. We describe two cases in which clinically unapparent heterozygotic mutations in the UGT1A1 gene may become evident in combination with certain environmental conditions or additional genetic defects.
authors.forename: Maria
authors.initials: M
authors.lastname: D'Apolito
authors.forename: Agnese
authors.initials: A
authors.lastname: Marrone
authors.forename: Veronica
authors.initials: V
authors.lastname: Servedio
authors.forename: Pietro
authors.initials: P
authors.lastname: Vajro
authors.forename: Luigia
authors.initials: L
authors.lastname: De Falco
authors.forename: Achille
authors.initials: A
authors.lastname: Iolascon
mesh_terms: D003414:Crigler-Najjar Syndrome / Q000235:genetics; D004777:Environment; D005786:Gene Expression Regulation; D005878:Gilbert Disease / Q000235:genetics; D014453:Glucuronosyltransferase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D006932:Hyperbilirubinemia / Q000235:genetics*; D007231:Infant, Newborn; D007565:Jaundice / Q000235:genetics; D009154:Mutation; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme; C019787:bilirubin glucuronoside glucuronosyltransferase