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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Detalles Bibliográficos
Autores principales: Vrtel, Petr, Slavik, Ludek, Vodicka, Radek, Stellmachova, Julia, Prochazka, Martin, Prochazkova, Jana, Ulehlova, Jana, Rohon, Peter, Simurda, Tomas, Stasko, Jan, Martinkova, Ivana, Vrtel, Radek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9139221/
https://www.ncbi.nlm.nih.gov/pubmed/35626216
http://dx.doi.org/10.3390/diagnostics12051060

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9139221/
https://www.ncbi.nlm.nih.gov/pubmed/35626216
http://dx.doi.org/10.3390/diagnostics12051060

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