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Xin-Yan Chen

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Oct 2026

A novel γ-chain Tyr306Asn missense mutation causes congenital dysfibrinogenemia.

BACKGROUND Congenital dysfibrinogenemia is an inherited disorder caused by fibrinogen gene defects, leading to structural and functional abnormalities of the protein. We identified a novel heterozygous γTyr306Asn mutation in a 26-year-old woman and aimed to elucidate its pathogenic mechanism. METHOD The study used co...

Yang-Yang Wu, Lu He, Chen Qian et al. · 0 citations

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