Three Japanese patients with Crigler-Najjar syndrome type I carry an identical nonsense mutation in the gene for UDP-glucuronosyltransferase.
Department of Biochemistry, Aichi Cancer Center Research Institute, Nagoya, Japan.
O
O
Koiwai
Y
Y
Yasui
K
K
Hasada
S
S
Aono
H
H
Sato
M
M
Fujikake
T
T
Aoki
D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D001663:Bilirubin / Q000378:metabolism; D002648:Child; D003241:Consanguinity; D003414:Crigler-Najjar Syndrome / Q000201:enzymology / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation
D014453:Glucuronosyltransferase; D001663:Bilirubin