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在SERPINC1基因中罕见的化合物异构基因突变的临床和功能特征,导致严重的血栓友爱症

Ke Zhang1, Haiyue Zhang2, Dandan Yu1

  • 1Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.

Gene
|December 17, 2023
PubMed
概括

一个患者的遗传性抗素 (AT) 缺乏症是 SERPINC1 基因中复合异构基因突变的结果. 一种突变导致AT蛋白降解,另一种导致mRNA减少,两种都导致I型AT缺乏症.

关键词:
复合异构基突变是复合的异构基突变.再组合的AT蛋白是什么?第一种类型的抗血素缺乏症.这是一个VTE,VTE是VTE.

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