The Molecular Basis of Hemophilia A and the Present Status of Carrier and Antenatal Diagnosis of the Disease
The Molecular Basis of Hemophilia A and the Present Status of Carrier and Antenatal Diagnosis of the Disease
复制标题
甲型血友病的分子基础及其携带者现状和产前诊断
DOI：
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发表时间：
1993
影响因子：
6.7
通讯作者：
H. Kazazian
中科院分区：
文献类型：
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作者：
H. Kazazian
血友病A是一种X-连锁的凝血障碍，影响约1/10，000的男性（1）。这种疾病是由于编码因子VIII的基因中的分子缺陷引起的。一种通过激活的因子IX激活因子X的辅因子。临床上，该疾病被分类为轻度（血浆中5-3076因子VIII活性）、中度（2-5%活性）。或重度（>I%活性）
Hemophilia A is an X-linked disorder of blood coagulation which affects about 1 in 10,000 males (1). The disease is due to molecular defects in the gene encoding factor VIII. a cofactor in the activation of factor X by activated factor IX. Clinically, the disease is classified as mild (5-3076 factor VIII activity in plasma), moderate (2-5% activity). or severe (>I% activity)