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

页码：77 / 80

页数：4

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