title: Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I.
authors: Department of Pediatrics, Shiga University of Medical Science, Shiga, Japan.
authors: Yoshihiro
authors: Y
authors: Maruo
authors: Ishwar Chander
authors: IC
authors: Verma
authors: Katsuyuki
authors: K
authors: Matsui
authors: Hiroko
authors: H
authors: Takahashi
authors: Yu
authors: Y
authors: Mimura
authors: Yoriko
authors: Y
authors: Ota
authors: Asami
authors: A
authors: Mori
authors: Renu
authors: R
authors: Saxena
authors: Hiroshi
authors: H
authors: Sato
authors: Yoshihiro
authors: Y
authors: Takeuchi
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D015153:Blotting, Western; D019556:COS Cells; D002675:Child, Preschool; D002522:Chlorocebus aethiops; D003062:Codon; D003414:Crigler-Najjar Syndrome / Q000145:classification / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D014453:Glucuronosyltransferase / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D020125:Mutation, Missense; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011487:Protein Conformation; D017384:Sequence Deletion; D000099148:UGT1A1 Enzyme
chemical_list: D003062:Codon; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme