A novel fibrinogen gamma-chain mutation, p. γAla327Val, causes structural abnormality of D region and ultimately leads to congenital dysfibrinogenemia
Aiqiu Wei, Yangyang Wu, Liqun Xiang, Jie Yan, Peng Cheng, Donghong Deng, Faquan Lin
This study identifies a novel γAla327Val mutation in the FGG gene causing congenital dysfibrinogenemia by altering fibrinogen structure and function.
bioRxiv · Jan 29, 2020 · PreprintMolecular Biology