A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler-Najjar syndrome type II.
Huang
C S
CS
Department of Laboratory Medicine, Cathay General Hospital, Taipei, Taiwan. pcsh@ms1cgh.org.tw
Luo
G A
GA
Huang
M J
MJ
Chen
E S
ES
Young
T H
TH
Chao
Y C
YC
D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution / Q000235:genetics*; D001483:Base Sequence; D003414:Crigler-Najjar Syndrome / Q000145:classification / Q000201:enzymology* / Q000235:genetics*; D016368:Frameshift Mutation; D006580:Genetic Carrier Screening; D014644:Genetic Variation / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D000099148:UGT1A1 Enzyme
D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme