Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association

In hemophilia A, F8 nonsense variants, and particularly those affecting the large factor VIII (FVIII) B domain that is dispensable for coagulant activity, display lower association with replacement therapy-related anti-FVIII inhibitory antibodies as retrieved from multiple international databases. S...

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Detalles Bibliográficos
Autores principales: Testa, Maria Francesca, Lombardi, Silvia, Bernardi, Francesco, Ferrarese, Mattia, Belvini, Donata, Radossi, Paolo, Castaman, Giancarlo, Pinotti, Mirko, Branchini, Alessio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Fondazione Ferrata Storti 2022
Materias:
Article - Coagulation & its Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9890017/
https://www.ncbi.nlm.nih.gov/pubmed/35924581
http://dx.doi.org/10.3324/haematol.2022.281279

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9890017/
https://www.ncbi.nlm.nih.gov/pubmed/35924581
http://dx.doi.org/10.3324/haematol.2022.281279

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