A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type 1.
Maruo
Yoshihiro
Y
Department of Pediatrics, Shiga University of Medical Science, Otsu, Shiga, Japan. maruo@bellebsd.shiga-med.ac.jp
Serdaroglu
Erkin
E
Iwai
Masaru
M
Takahashi
Hiroko
H
Mori
Asami
A
Bak
Mustafa
M
Calkavur
Sebnem
S
Sato
Hiroshi
H
Takeuchi
Yoshihiro
Y
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D017124:Conserved Sequence; D003414:Crigler-Najjar Syndrome / Q000201:enzymology*; D005091:Exons; D005260:Female; D014453:Glucuronosyltransferase / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic / Q000235:genetics; D016385:TATA Box; D014421:Turkey; D000099148:UGT1A1 Enzyme
D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme; C019787:bilirubin glucuronoside glucuronosyltransferase