Hematologically important mutations: Bilirubin UDP-glucuronosyltransferase gene mutations in gilbert and Crigler-Najjar syndromes

被引：28
|
作者：
Costa, E [1 ]
机构：
[1] Inst Politecn Braganca, Escola Super Saude, P-5300121 Braganca, Portugal
来源：
BLOOD CELLS MOLECULES AND DISEASES | 2006年 / 36卷 / 01期
关键词：
Gilbert syndrome; UGT1A1; hyperbilirubinemia; mutations;
D O I：
10.1016/j.bcmd.2005.10.006
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Gilbert and Crigler-Naijar syndromes are familial unconjugated hyperbilirubinemias caused by genetic lesions involving a single complex locus encoding for bilirubin UDP-glucuronosyltransferase (UGT1A1) gene. Over the last years, a number of different mutations affecting this gene have been characterized. In this report is provided a summary of reported Gilbert and Crigler-Najjar syndromes-associated UGT1A1 gene mutations. (c) 2005 Elsevier Inc. All rights reserved.
引用
收藏
页码：77 / 80
页数：4
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