Novel SERPINC1 missense mutation (Cys462Tyr) causes disruption of the 279Cys-462Cys disulfide bond and leads to type Ⅰ hereditary antithrombin deficiency
Fuyong Zhang, Ying Gui, Yu Lu, Denghe Liu, Huaping Chen, Xue Qin, Shan Li
Topics & Concepts
Missense mutationProbandGeneticsMutationExonAntithrombinMedicineInternal medicineEndocrinologyBiologyGeneHeparinBlood Coagulation and Thrombosis MechanismsAtrial Fibrillation Management and OutcomesBlood properties and coagulation