病例报告:一种SERPINC1新突变的病例导致了血栓性微血管病变

Bing Li1, Xiaohui Zhang1, Hailin Lv1

  • 1Department of Nephrology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, Qingdao, China.

Frontiers in genetics
|October 13, 2023
PubMed
概括

在患有新型SERPINC1突变的患者中发现了遗传性抗血缺乏症,这是血栓性微血管病变 (TMA) 的罕见原因. 早期基因检测对于诊断这种罕见疾病至关重要.

相关概念视频