An updated interactive database for 1692 genetic variants in coagulation factor IX provides detailed insights into hemophilia B.
Journal of thrombosis and haemostasis : JTH(2023)
摘要
The even distribution of the F9 variants revealed few mutational hotspots, and most variants were associated with small perturbations in the FIX protein structure. The updated database will assist clinicians and researchers in assessing treatments for patients with hemophilia B.
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关键词
coagulation factors,genetic variants,hemostasis,inherited coagulation disorders,protein structure/folding
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