换一批摘要This study sought to elucidate the genetic correlation of cerebral venous sinus thrombosis caused by a hereditary antithrombin deficiency in a Chinese family, at the genetic and protein levels. A nonsense mutation from C to T on locus 6431 in exon 3B of the antithrombin gene was observed,leading to an arginine (CGA) to stop codon (TGA) change in the protein. This is the first report of this mutation in China. Ineffective heparin therapy in the propositus patient is associated with a lack of heparin binding sites after antithrombin gene mutation. Characteristic low intracranial pressure in the acute phase might be specific to this patient with cerebral venous sinus thrombosis.
更多相关知识
关键词
antithrombincerebral venous sinus thrombosisintracranial hypotensionnonsense mutationbrain edema
分类号
R743.3
栏目名称
DOI
10.3969/j.issn.1673-5374.2011.20.010
发布时间
2011-11-14（万方平台首次上网日期，不代表论文的发表时间）
- 浏览138
- 被引2
- 下载5
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
