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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Detalhes bibliográficos
Main Authors: Petr Vrtel, Ludek Slavik, Radek Vodicka, Julia Stellmachova, Martin Prochazka, Jana Prochazkova, Jana Ulehlova, Peter Rohon, Tomas Simurda, Jan Stasko, Ivana Martinkova, Radek Vrtel
Formato: Artigo
Idioma:English
Publicado em: MDPI AG 2022-04-01
Colecção:Diagnostics
Assuntos:
high-throughput sequencing
NGS
antithrombin deficiency
protein C deficiency
protein S deficiency
mutation detection rate
Acesso em linha:https://www.mdpi.com/2075-4418/12/5/1060

Internet

https://www.mdpi.com/2075-4418/12/5/1060

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