[具有遗传性纤维素缺乏症的两个血统的表型和基因型分析]
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 325015, China.
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
|January 7, 2024
概括
这项研究确定了两种新的异质合变异突变,p.BβAla98Asp和p.BβSer473*,导致纤维素缺乏. 这些遗传变异分别导致纤维蛋白缺血和纤维蛋白缺血,影响血液凝固.
科学领域:
- 血液学 血液学 血液学
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
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