共 50 条
- [1] IDENTIFICATION OF A GENETIC ALTERATION IN THE CODE FOR BILIRUBIN UDP-GLUCURONOSYLTRANSFERASE IN THE UGT1 GENE-COMPLEX OF A CRIGLER-NAJJAR TYPE-I PATIENT JOURNAL OF CLINICAL INVESTIGATION, 1992, 90 (01): : 150 - 155
- [3] 2 DIFFERENT MISSENSE MUTATIONS AT THE UGT1 GENE-COMPLEX LOCUS THAT GENERATE PH-SENSITIVE ACTIVITY OF THE MAJOR BILIRUBIN UDP-GLUCURONOSYLTRANSFERASE IN CRIGLER-NAJJAR TYPE-II PATIENTS FASEB JOURNAL, 1995, 9 (06): : A1267 - A1267
- [4] MAPPING OF THE UDP-GLUCURONOSYLTRANSFERASE (UGT1) GENE TO CHROMOSOME-2 - DIRECT LINKAGE WITH HYPERBILIRUBINEMIA AND CRIGLER-NAJJAR SYNDROME CYTOGENETICS AND CELL GENETICS, 1993, 64 (02): : 90 - 90
- [5] A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type 1 JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2003, 37 (05): : 627 - 630
- [7] BILIRUBIN UDP-GLUCURONOSYLTRANSFERASE-SPECIFIC MUTATIONS IN THE UGT1 GENE-COMPLEX FASEB JOURNAL, 1993, 7 (07): : A1228 - A1228
- [8] Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1998, 1407 (01): : 40 - 50