寻找遗传性血栓形成倾向中的突变。

Hunting for the mutation in inherited thrombophilia.

作者信息

Gomez Keith, Laffan Michael A

机构信息

MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK.

出版信息

Blood Coagul Fibrinolysis. 2004 Mar;15(2):125-7. doi: 10.1097/00001721-200403000-00002.

DOI:10.1097/00001721-200403000-00002

PMID:15090998

Abstract

Mutation detection in inherited thrombophilia remains largely confined to the research laboratory. However, there are specific situations when investigating the genetic defect causing thrombophilia can provide additional useful clinical information. This review discusses the value of genetic analysis in the common inherited thrombophilias.

摘要

遗传性血栓形成倾向的突变检测目前大多局限于研究实验室。然而，在某些特定情况下，对导致血栓形成倾向的基因缺陷进行调查能够提供额外有用的临床信息。本综述讨论了常见遗传性血栓形成倾向中基因分析的价值。