Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1.
Maruo
Yoshihiro
Y
Department of Pediatrics, Shiga University of Medical Science, Tsukinowa, Otsu, Shiga 530-2192, Japan. maruo@belle.shiga-med.ac.jp
Topaloglu
Ali K
AK
Takahashi
Hiroko
H
Mori
Asami
A
Iwai
Masaru
M
Duzovali
Oznur
O
Yamamoto
Kazuo
K
Matui
Katsuyuki
K
Sato
Hiroshi
H
Takeuchi
Yoshihiro
Y
D015153:Blotting, Western; D002648:Child; D003414:Crigler-Najjar Syndrome / Q000188:drug therapy / Q000235:genetics*; D015971:Gene Expression Regulation, Enzymologic; D005822:Genetic Vectors; D014453:Glucuronosyltransferase / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D006933:Hyperbilirubinemia, Hereditary / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D009154:Mutation; D010634:Phenobarbital / Q000627:therapeutic use; D000099148:UGT1A1 Enzyme
D014453:Glucuronosyltransferase; D010634:Phenobarbital; D000099148:UGT1A1 Enzyme