Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene.
Iolascon
A
A
Meloni
A
A
Coppola
B
B
Rosatelli
M C
MC
D000293:Adolescent; D019943:Amino Acid Substitution; D001663:Bilirubin / Q000097:blood; D003414:Crigler-Najjar Syndrome / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D017384:Sequence Deletion
D004247:DNA; D014453:Glucuronosyltransferase; D001663:Bilirubin