Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I.
Costa
Elísio
E
Vieira
Emília
E
Lopes
Ana Isabel
AI
Saldanha
Maria Joana
MJ
Brites
Dora
D
Dos Santos
Rosário
R
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003414:Crigler-Najjar Syndrome / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D014453:Glucuronosyltransferase / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D051556:Hyperbilirubinemia, Neonatal / Q000209:etiology / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017384:Sequence Deletion; D000099148:UGT1A1 Enzyme
D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme