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Updated: Jun 4, 2025

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两个独立的中国家庭的分子和临床特征,其中有蛋白C缺乏症

Mengzhen Wen1, Yifan Lu1, Haixiao Xie1

  • 1Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou, 325000, China.

Annals of hematology
|December 26, 2024
PubMed
概括

在患有深静脉血栓和肺栓塞的中国家庭中,发现了蛋白C基因 (PROC) 的两种新奇突变. 新发现的p.Trp444Arg突变损害了蛋白C的功能和分泌.

关键词:
在体外表达.生物信息学是一种生物信息学.一个新的突变.蛋白C缺乏症 蛋白C缺乏症血生成试验测定

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