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甲型血友病的分子基础。

The molecular basis of haemophilia A.

作者信息

Peake I

机构信息

Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK.

出版信息

Haemophilia. 1998 Jul;4(4):346-9. doi: 10.1046/j.1365-2516.1998.440346.x.

Abstract

The cloning and isolation of the human factor VIII (FVIII) gene in the mid-1980s has lead to 10 years of increasing understanding of the genetic and hence the molecular basis of haemophilia A. These studies are not only of enormous potential benefit for accurate carrier detection and prenatal diagnosis in families with haemophilia A, but provide insights into the relationships between genetic defects and their clinical manifestations. These latter studies not only explain and even predict the severity of the disease but may also help towards a better understanding of the basis of inhibitor development.

摘要

20世纪80年代中期人类凝血因子VIII(FVIII)基因的克隆和分离,使得人们对甲型血友病的遗传及分子基础的理解在随后十年不断加深。这些研究不仅对于准确检测甲型血友病家族中的携带者和进行产前诊断具有巨大的潜在益处,还为深入了解基因缺陷与其临床表现之间的关系提供了思路。后一类研究不仅能解释甚至预测疾病的严重程度,还有助于更好地理解抑制物产生的基础。

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