Cis-Segregation of c.1171C>T Stop Codon (p.R391*) in SERPINC1 Gene and c.1691G>A Transition (p.R506Q) in F5 Gene and Selected GWAS Multilocus Approach in Inherited Thrombophilia

Inherited thrombophilia (e.g., venous thromboembolism, VTE) is due to rare loss-of-function mutations in anticoagulant factors genes (i.e., SERPINC1, PROC, PROS1), common gain-of-function mutations in procoagulant factors genes (i.e., F5, F2), and acquired risk conditions. Genome Wide Association St...

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Detalles Bibliográficos
Autores principales: Gemmati, Donato, Longo, Giovanna, Franchini, Eugenia, Araujo Silva, Juliana, Gallo, Ines, Lunghi, Barbara, Moratelli, Stefano, Maestri, Iva, Serino, Maria Luisa, Tisato, Veronica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8234447/
https://www.ncbi.nlm.nih.gov/pubmed/34207366
http://dx.doi.org/10.3390/genes12060934

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8234447/
https://www.ncbi.nlm.nih.gov/pubmed/34207366
http://dx.doi.org/10.3390/genes12060934

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