13例肿瘤中有12例发现杂合子突变。
方法:调查9名杂合子突变携带者和9名健康对照者。
Methods: nine heterozygous mutation carriers and nine healthy controls were investigated.
大多数父母是一个正常等位基因和一个突变等位基因的杂合子。
Most parents are heterozygotes with one normal allele and one mutated allele.
杂合子i型(定量)和大多数II型(定性)抗凝血酶缺乏症使静脉血栓栓塞(VTE)的风险显着增加,而纯合型突变会导致死亡。
Heterozygous type I (quantitative) and most type II (qualitative) antithrombin deficiencies highly increase the risk of venous thromboembolism (VTE), while homozygous mutations are lethal.
杂合子i型(定量)和大多数II型(定性)抗凝血酶缺乏症使静脉血栓栓塞(VTE)的风险显着增加,而纯合型突变会导致死亡。
Heterozygous type I (quantitative) and most type II (qualitative) antithrombin deficiencies highly increase the risk of venous thromboembolism (VTE), while homozygous mutations are lethal.
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