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乙型血友病的分子基础。

The molecular basis of haemophilia B.

作者信息

Lillicrap D

机构信息

Department of Pathology, Richardson Laboratory, Queen's University, Kingston, Ontario, Canada.

出版信息

Haemophilia. 1998 Jul;4(4):350-7. doi: 10.1046/j.1365-2516.1998.440350.x.

Abstract

Over the past 15 years, our knowledge of the molecular basis of haemophilia B has increased dramatically. Following the cloning and characterization of the factor IX gene in 1982, major advances have been made in documenting the molecular pathology that underlies this condition. This review will summarize the current state of information in this area, and the reader is referred to the Haemophilia B Mutation Database World Wide Web site at http://www.umds.ac.uk/molgen/haemBdatabase for a complete current listing of the mutations that cause this phenotype. In addition, other recent reviews have discussed complementary issues relating to this topic.

摘要

在过去15年里,我们对B型血友病分子基础的了解有了显著增加。1982年因子IX基因被克隆和鉴定之后,在记录该病症潜在的分子病理学方面取得了重大进展。本综述将总结该领域的当前信息状况,读者可查阅http://www.umds.ac.uk/molgen/haemBdatabase网站上的B型血友病突变数据库,以获取导致该表型的突变的完整最新列表。此外,最近的其他综述讨论了与该主题相关的补充问题。

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