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

被引：0
|
作者：
CIOTTI, M
OBARAY, R
MARTIN, M
OWENS, IS
机构：
[1] NICHHD, HUMAN GENET BRANCH, BETHESDA, MD 20892 USA
[2] UNIV CALIF LOS ANGELES, MED CTR, DEPT PEDIAT, LOS ANGELES, CA 90024 USA
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
下载
收藏
页码：A1267 / A1267
页数：1
相关论文
共 50 条
  • [31] The novel UGT1 gene complex links bilirubin, xenobiotics, and therapeutic drug metabolism by encoding UDP-glucuronosyltransferase isozymes with a common carboxyl terminus
    Owens, IS
    Ritter, JK
    Yeatman, MT
    Chen, F
    JOURNAL OF PHARMACOKINETICS AND BIOPHARMACEUTICS, 1996, 24 (05): : 491 - 508
  • [32] Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia
    Minucci, Angelo
    Canu, Giulia
    Gentile, Leonarda
    Cimino, Vincenzo
    Giardina, Bruno
    Zuppi, Cecilia
    Capoluongo, Ettore
    CLINICAL BIOCHEMISTRY, 2013, 46 (1-2) : 170 - 172
  • [33] A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome
    Wang Jin
    Fang Ling-juan
    Li Long
    Wang Jian-she
    Chen Chao
    CHINESE MEDICAL JOURNAL, 2011, 124 (23) : 4109 - 4111
  • [34] IDENTIFICATION OF 2 SINGLE-BASE SUBSTITUTIONS IN THE UGT1 GENE LOCUS WHICH ABOLISH BILIRUBIN URIDINE-DIPHOSPHATE GLUCURONOSYLTRANSFERASE ACTIVITY IN-VITRO
    ERPS, LT
    RITTER, JK
    HERSH, JH
    BLOSSOM, D
    MARTIN, NC
    OWENS, IS
    JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (02): : 564 - 570
  • [35] Crigler-Najjar syndrome type II in a caucasian patient resulting from two mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene
    Kraemer, D
    Klinker, H
    JOURNAL OF HEPATOLOGY, 2002, 36 (05) : 706 - 707
  • [36] Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene
    Francoual, J
    Rivierre, A
    Mokrani, C
    Khrouf, N
    Gottrand, F
    Myara, A
    Le Bihan, B
    Capel, L
    Lindenbaum, A
    Labrune, P
    HUMAN MUTATION, 2002, 19 (05) : 570 - 571
  • [37] Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene
    Yan Li
    Yu-jin Qu
    Xue-mei Zhong
    Yan-yan Cao
    Li-min Jin
    Jin-li Bai
    Xin Ma
    Yu-wei Jin
    Hong Wang
    Yan-ling Zhang
    Fang Song
    Journal of Zhejiang University SCIENCE B, 2014, 15 : 474 - 481
  • [38] Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene
    Li, Yan
    Qu, Yu-jin
    Zhong, Xue-mei
    Cao, Yan-yan
    Jin, Li-min
    Bai, Jin-li
    Ma, Xin
    Jin, Yu-wei
    Wang, Hong
    Zhang, Yan-ling
    Song, Fang
    JOURNAL OF ZHEJIANG UNIVERSITY-SCIENCE B, 2014, 15 (05): : 474 - 481
  • [39] Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis
    Bixia Zheng
    Guorui Hu
    Jin Yu
    Zhifeng Liu
    BMC Pediatrics, 14
  • [40] Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis
    Zheng, Bixia
    Hu, Guorui
    Yu, Jin
    Liu, Zhifeng
    BMC PEDIATRICS, 2014, 14
12345