Phenotypic and glycosylation profiles of the FGG c.902G > A (p.Arg301His) mutation in a Chinese pedigree with congenital dysfibrinogenemia.

doi:10.1016/j.thromres.2026.109793

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Phenotypic and glycosylation profiles of the FGG c.902G > A (p.Arg301His) mutation in a Chinese pedigree with congenital dysfibrinogenemia.

Thrombosis research - 1 Aug 2026

Kang Xiaozhen, Cao Luoyuan, Peng Weitong, Peng Xianxiang, Lu Jiaojiao, Zhang Tao, Wei Shouzhong

Abstract excerpt

OBJECTIVE: Congenital dysfibrinogenemia (CD) is characterized by functionally impaired fibrinogen. This study aimed to characterize the phenotypic, molecular, and clinical features associated with the FGG p.Arg301His mutation in a Chinese pedigree. METHODS: A Chinese pedigree comprising 12 members was enrolled, including 6 individuals carrying the FGG p.Arg301His mutation. Phenotypic evaluation was performed...

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PMID: 42551304
DOI: 10.1016/j.thromres.2026.109793

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