Severe factor VII deficiency due to a mutation disrupting an Sp1 binding site in the factor VII promoter
Severe factor VII deficiency due to a mutation disrupting an Sp1 binding site in the factor VII promoter
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DOI：
10.1182/blood.v92.5.1639.417k10_1639_1645
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发表时间：
1998-09-01
期刊：
影响因子：
20.3
通讯作者：
Bauer, KA
中科院分区：
文献类型：
--
作者：
Carew, JA;Pollak, ES;Bauer, KA
我们已经确定了一个点突变的启动子因子VII基因负责一个严重的出血性疾病的患者从一个大的法裔加拿大家庭与已知的血缘关系。先证者血浆凝血因子VII抗原水平和凝血因子VII凝血活性极低（
We have identified a point mutation in the promoter of the factor VII gene responsible for a severe bleeding disorder in a patient from a large French-Canadian family with known consanguinity. The proband has an extremely row plasma level of factor VII antigen and factor VII coagulant activity (