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

被引：0
|
作者：
RUBALTELLI, D
CIOTTI, M
RUBALTELLI, FF
OWENS, IS
机构：
[1] NICHHD, HUMAN GENET BRANCH, BETHESDA, MD 20892 USA
[2] UNIV PADUA, DIPARTIMENTO PEDIAT, I-35128 PADUA, ITALY
来源：
FASEB JOURNAL | 1995年 / 9卷 / 06期
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
引用
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页码：A1267 / A1267
页数：1
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  • [1] A PHENYLALANINE CODON DELETION AT THE UGT1 GENE-COMPLEX LOCUS OF A CRIGLER-NAJJAR TYPE-I PATIENT GENERATES A PH-SENSITIVE BILIRUBIN UDP-GLUCURONOSYLTRANSFERASE
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  • [2] IDENTIFICATION OF A 2-BASE MUTATION IN THE BILIRUBIN UDP-GLUCURONOSYLTRANSFERASE GENE AT THE UGT1 GENE-COMPLEX LOCUS IN 2 UNRELATED CRIGLER-NAJJAR TYPE-1 PATIENTS
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    [J]. FASEB JOURNAL, 1995, 9 (06): : A1267 - A1267
  • [3] IDENTIFICATION OF A GENETIC ALTERATION IN THE CODE FOR BILIRUBIN UDP-GLUCURONOSYLTRANSFERASE IN THE UGT1 GENE-COMPLEX OF A CRIGLER-NAJJAR TYPE-I PATIENT
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  • [4] A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type 1
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  • [5] Delayed response to phenobarbital treatment of a Crigler-Najjar type II patient with partially inactivating missense mutations in the bilirubin UDP-glucuronosyltransferase gene
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    [J]. JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 1999, 28 (02): : 210 - 213
  • [6] MAPPING OF THE UDP-GLUCURONOSYLTRANSFERASE (UGT1) GENE TO CHROMOSOME-2 - DIRECT LINKAGE WITH HYPERBILIRUBINEMIA AND CRIGLER-NAJJAR SYNDROME
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  • [7] IDENTIFICATION OF AN A-TO-G MISSENSE MUTATION IN EXON-2 OF THE UGT1 GENE-COMPLEX THAT CAUSES CRIGLER-NAJJAR SYNDROME TYPE-2
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    [J]. GENOMICS, 1993, 18 (01) : 171 - 173
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  • [10] Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates
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    [J]. PHARMACOGENETICS AND GENOMICS, 2007, 17 (12): : 1017 - 1029
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