Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.
Moghrabi
N
N
Department of Biochemical Medicine, University of Dundee, Ninewells Hospital and Medical School, Scotland, United Kingdom.
Clarke
D J
DJ
Boxer
M
M
Burchell
B
B
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003414:Crigler-Najjar Syndrome / Q000201:enzymology / Q000235:genetics*; D004247:DNA; D005091:Exons; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation
C019787:bilirubin glucuronoside glucuronosyltransferase; D004247:DNA; D014453:Glucuronosyltransferase