title: A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler-Najjar syndrome type II.
authors.affiliation: Department of Laboratory Medicine, Cathay General Hospital, Taipei, Taiwan. pcsh@ms1cgh.org.tw
authors.forename: C S
authors.initials: CS
authors.lastname: Huang
authors.forename: G A
authors.initials: GA
authors.lastname: Luo
authors.forename: M J
authors.initials: MJ
authors.lastname: Huang
authors.forename: E S
authors.initials: ES
authors.lastname: Chen
authors.forename: T H
authors.initials: TH
authors.lastname: Young
authors.forename: Y C
authors.initials: YC
authors.lastname: Chao
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution / Q000235:genetics*; D001483:Base Sequence; D003414:Crigler-Najjar Syndrome / Q000145:classification / Q000201:enzymology* / Q000235:genetics*; D016368:Frameshift Mutation; D006580:Genetic Carrier Screening; D014644:Genetic Variation / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme