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Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene.

作者信息

Petit F, Gajdos V, Capel L, Parisot F, Myara A, Francoual J, Labrune P

出版信息

Clin Genet. 2006 Jun;69(6):525-7. doi: 10.1111/j.1399-0004.2006.00616.x.

DOI:10.1111/j.1399-0004.2006.00616.x
PMID:16712705
Abstract
摘要

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Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene.克里格勒-纳贾尔综合征II型可能由UGT1A1基因突变的几种类型及其组合引起。
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Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene.由胆红素尿苷5'-二磷酸葡萄糖醛酸基转移酶(UGT1A1)基因的三种不同突变导致的II型克里格勒-纳贾尔综合征。
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A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome.UGT1A1 基因的一种新移码突变导致 I 型克里格勒-纳贾尔综合征。
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Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome.一名患有II型克里格勒-纳贾尔综合征儿童的UGT1A1基因纯合(TA)8启动子多态性与N400D突变的关联。
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Uridine 5'-diphospho-glucronosyltrasferase: Its role in pharmacogenomics and human disease.尿苷5'-二磷酸葡萄糖醛酸基转移酶:其在药物基因组学和人类疾病中的作用。
Exp Ther Med. 2018 Jul;16(1):3-11. doi: 10.3892/etm.2018.6184. Epub 2018 May 18.
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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.
一名中国男孩因胆红素尿苷5'-二磷酸葡萄糖醛酸基转移酶(UGT1A1)基因的三个突变导致II型克里格勒-纳贾尔综合征及家族遗传分析
BMC Pediatr. 2014 Oct 15;14:267. doi: 10.1186/1471-2431-14-267.
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Molecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II.韩国II型克里格勒-纳贾尔综合征患者UGT1A1基因的分子分析
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Truncated UDP-glucuronosyltransferase (UGT) from a Crigler-Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum.来自一名II型克里格勒-纳贾尔综合征患者的截短型尿苷二磷酸葡萄糖醛酸基转移酶(UGT)与完整的UGT在内质网中共定位。
J Hum Genet. 2014 Mar;59(3):158-62. doi: 10.1038/jhg.2013.138. Epub 2014 Jan 9.
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Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes.人尿苷二磷酸葡萄糖醛酸基转移酶基因有害非同义单核苷酸多态性的预测
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In silico and in vitro pharmacogenetic analysis in mice.小鼠的计算机模拟和体外药物遗传学分析。
Proc Natl Acad Sci U S A. 2007 Nov 6;104(45):17735-40. doi: 10.1073/pnas.0700724104. Epub 2007 Oct 31.
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