Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I.
Maruo
Yoshihiro
Y
Department of Pediatrics, Shiga University of Medical Science, Shiga, Japan.
Verma
Ishwar Chander
IC
Matsui
Katsuyuki
K
Takahashi
Hiroko
H
Mimura
Yu
Y
Ota
Yoriko
Y
Mori
Asami
A
Saxena
Renu
R
Sato
Hiroshi
H
Takeuchi
Yoshihiro
Y
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
D003062:Codon; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme