Article
The Molecular Basis of FIX Deficiency in Hemophilia B.
International journal of molecular sciences - 2 Mar 2022
Shen Guomin, Gao Meng, Cao Qing, Li Weikai
Abstract excerpt
Coagulation factor IX (FIX) is a vitamin K dependent protein and its deficiency causes hemophilia B, an X-linked recessive bleeding disorder. More than 1000 mutations in the F9 gene have been identified in hemophilia B patients. Here, we systematically summarize the structural and functional characteristics of FIX and the pathogenic mechanisms of the mutations that have been identified to date. The mechanisms of...
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