Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing

Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing

The deficiency of natural anticoagulants—antithrombin (AT), protein C (PC), and protein S (PS)—is a highly predisposing factor for thrombosis, which is still underdiagnosed at the genetic level. We aimed to establish and evaluate an optimal diagnostic approach based on a high-throughput sequencing p...

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Bibliographic Details
Main Authors: Martinkova, I. (Author), Prochazka, M. (Author), Prochazkova, J. (Author), Rohon, P. (Author), Simurda, T. (Author), Slavik, L. (Author), Stasko, J. (Author), Stellmachova, J. (Author), Ulehlova, J. (Author), Vodicka, R. (Author), Vrtel, P. (Author), Vrtel, R. (Author)
Format: Article
Language:English
Published: MDPI 2022
Subjects:
anticoagulant
antithrombin deficiency
high-throughput sequencing
mutation detection rate
NGS
protein C deficiency
protein S deficiency
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