抗凝血酶缺乏
抗凝血酶缺乏-
目的对一先天性Ⅰ型抗凝血酶缺乏症家系进行基因突变的检测。
Objective To identify the gene mutation of a kindred with type ⅰ antithrombin deficiency .
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结论该突变是先天性抗凝血酶缺乏症的一个新的突变位点，可以导致血栓形成。
Conclusion This is a novel mutation , which can cause antithrombin deficiency and thrombosis .
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遗传性抗凝血酶缺乏症研究进展
Development Study of Inherited Antithrombin Deficiency