title: Compound heterozygote of a novel missense mutation (p.K402T) and a double missense mutation (p.[G71R;Y486D]) in type II Crigler-Najjar syndrome.
authors.affiliation: Department of Pediatrics, Shiga University of Medical Science, Otsu, Shiga, Japan. maruo@belle.shiga-med.ac.jp
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Maruo
authors.forename: Funda
authors.initials: F
authors.lastname: Ozgenc
authors.forename: Yu
authors.initials: Y
authors.lastname: Mimura
authors.forename: Yoriko
authors.initials: Y
authors.lastname: Ota
authors.forename: Katsuyuki
authors.initials: K
authors.lastname: Matsui
authors.forename: Hiroko
authors.initials: H
authors.lastname: Takahashi
authors.forename: Asami
authors.initials: A
authors.lastname: Mori
authors.forename: Takashi
authors.initials: T
authors.lastname: Taga
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Takano
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Sato
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Takeuchi
mesh_terms: D003414:Crigler-Najjar Syndrome / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D014453:Glucuronosyltransferase / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme