title: Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1.
authors.affiliation: Department of Pediatrics, Shiga University of Medical Science, Tsukinowa, Otsu, Shiga 530-2192, Japan. maruo@belle.shiga-med.ac.jp
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Maruo
authors.forename: Ali K
authors.initials: AK
authors.lastname: Topaloglu
authors.forename: Hiroko
authors.initials: H
authors.lastname: Takahashi
authors.forename: Asami
authors.initials: A
authors.lastname: Mori
authors.forename: Masaru
authors.initials: M
authors.lastname: Iwai
authors.forename: Oznur
authors.initials: O
authors.lastname: Duzovali
authors.forename: Kazuo
authors.initials: K
authors.lastname: Yamamoto
authors.forename: Katsuyuki
authors.initials: K
authors.lastname: Matui
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Sato
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Takeuchi
mesh_terms: D015153:Blotting, Western; D002648:Child; D003414:Crigler-Najjar Syndrome / Q000188:drug therapy / Q000235:genetics*; D015971:Gene Expression Regulation, Enzymologic; D005822:Genetic Vectors; D014453:Glucuronosyltransferase / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D006933:Hyperbilirubinemia, Hereditary / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D009154:Mutation; D010634:Phenobarbital / Q000627:therapeutic use; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D010634:Phenobarbital; D000099148:UGT1A1 Enzyme