[注册研究中的先天性血小板缩/血小板疾病基于高通量测序诊断的发展]
Akira Ishiguro1, Toru Uchiyama2, Atsushi Sakamoto3
1Center for Postgraduate Education and Training, National Center for Child Health and Development.
[Rinsho ketsueki] The Japanese journal of clinical hematology
|September 4, 2024
概括
基因检测在一半以上的先天性血栓塞缩症患者中发现了致病变异,有助于诊断. 不成熟的血小板分数 (IPF%) 水平有助于区分遗传原因与免疫血小板缩 (ITP).
科学领域:
- 血液学 血液学 血液学
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
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