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Molecular Basis of Inherited Protein C Deficiency Results from Genetic Variations in the Signal Peptide and Propeptide Regions.

Qing Cao,Zhenyu Hao, Cheng Li,Xuejie Chen,Meng Gao, Nan Jiang,Hongli Liu,Yan Shen,Haiping Yang, Shujuan Zhang, Aiying Yang,Weikai Li,Jian-Ke Tie,Guomin Shen

Journal of thrombosis and haemostasis（2023）

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Key words
inherited protein C deficiency (PCD),missense mutation,pathogenic,mechanism,signal peptide and propeptide,thrombophilia,aberrant pre-mRNA splicing
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