A user's guide to the interactive web database of factor H-associated hemolytic uremic syndrome

被引:4
作者
Saunders, RE [1 ]
Perkins, SJ [1 ]
机构
[1] UCL, Dept Biochem & Mol Biol, Royal Free & Univ Coll Med Sch, London WC1E 6BT, England
基金
英国惠康基金;
关键词
factor H; hemolytic uremic syndrome; mutation; factor I; membrane cofactor protein;
D O I
10.1055/s-2006-939772
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Atypical hemolytic uremic syndrome (aHUS) mutations have been reported in the complement regulatory proteins factor H, factor I, and membrane cofactor protein (MCP). Mutations within factor H are also associated with membranoproliferative glomerulonephritis and age-related macular degeneration. The increasing amount of information on aHUS requires organization if it is to be usable. Accordingly, an interactive factor H aHUS Web database has been developed (littp://www.fh-hus.org) that integrates genotypic, phenotypic, and structural information for mutations within human factor H. This provides a valuable tool for the interpretation of previously reported aHUS mutations, and provides prediction and analysis tools for new mutations. It will be extended to include mutations in factor I and MCP. Here, we describe how to use this Web database as a research tool, and indicate possible future directions depending on feedback from the clinical community.
引用
收藏
页码:160 / 167
页数:8
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