摘要
遗传性凝血因子Ⅶ(FⅦ)缺乏症是一种在临床上非常少见的出血性疾病,常与FⅦ基因缺陷有关,其临床表型往往与FⅦ基因的突变类型及突变区域密切相关。近年来国际上相继进行了几个较大的遗传性FⅦ缺乏症相关研究的合作项目,发现了新的基因突变,丰富了疾病相关基因突变数据库,而且在疾病基因治疗方面也取得了可喜的进展。
Inherited coagulation factor Ⅶ deficiency is a rare hemorrhagic disease,frequently associated with FⅦ gene deficiency.The clinical phenotype is closely related to factor Ⅶ gene mutation type and region.In recent years,several international collaborative projects on such disease have been carried out,identifying some new factor Ⅶ gene mutations and enriching the disease associated gene mutation database.Additionally,gene therapy has also made encouraging progress.This paper mainly reviews the above issues.
出处
《医学综述》
2010年第22期3372-3375,共4页
Medical Recapitulate
关键词
凝血因子Ⅶ
缺乏症
研究进展
Coagulation factor Ⅶ
Deficiency
Research progress
