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Updated: Sep 9, 2025

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System
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与先天性纤维素异常相关的遗传突变:全球分布和临床结果

Thaís Nóbrega1, Paula Villaça1, Erica Okazaki1

  • 1Hospital University of São Paulo, São Paulo, Brazil.

Journal of thrombosis and thrombolysis
|August 29, 2025
PubMed
概括

遗传性纤维素疾病 (CFD) 涉及导致出血或凝血的遗传突变. 这一综述绘制了全球突变分布和表型图,突出显示了低收入地区的数据缺口,以实现公平的罕见疾病管理.

关键词:
血红蛋白发生症遗传性基因组异位症纤维素全球疾病负担突变

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