Severe prekallikrein deficiencies due to homozygous C529Y mutations
Severe prekallikrein deficiencies due to homozygous C529Y mutations
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DOI：
10.1097/mbc.0b013e328010bcde
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发表时间：
2007-04-01
影响因子：
1.1
通讯作者：
de Mazancourt, Philippe
中科院分区：
文献类型：
--
作者：
Francois, Dominique;Trigui, Nawel;de Mazancourt, Philippe
对连续两次严重的前激肽释放酶缺乏症进行了调查。第一个病例是在一名因缺血性中风入院的 63 岁患者身上发现的。第二个缺陷是在一名因妊娠中期流产而入院的 38 岁患者身上发现的。两例病例都发现了纯合 C529Y 突变，但它们之间没有血缘关系，也没有发现患者有近亲结婚史。这些数据表明这种突变的高频率可能是前激肽释放酶缺乏的原因。
Two consecutive severe prekallikrein deficiencies were investigated. The first was identified in a 63-year-old patient admitted for ischemic stroke. The second deficiency was identified in a 38-year-old patient admitted for a second-trimester pregnancy loss. A homozygous C529Y mutation was identified for both cases, whereas they are unrelated and no consanguineous marriage is known from the patients. These data point to a possible high frequency of this mutation as a cause of prekallikrein deficiency.