在FGG基因中的c.1201C > G (p.Arg401Gly) 突变对纤维原体稳定性和功能的影响

Jingyi Lu1, Zeyi Xiang2, Yonglong Ye1

  • 1Department of Laboratory Medicine, Dongguan Hospital of Guangzhou University of Chinese Medicine, Dongguan, China.

Frontiers in medicine
|October 1, 2025
PubMed
概括

一种新的FGG基因突变导致先天性纤维蛋白质变异,影响纤维蛋白质稳定性和凝块结构. 这一遗传发现有助于为这种罕见的出血障碍进行家庭诊断和咨询.

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