F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes

BACKGROUND: Circulating dysfunctional factor IX (FIX) might modulate distribution of infused FIX in hemophilia B (HB) patients. Recurrent substitutions at FIX activation sites (R191‐R226, >300 patients) are associated with variable FIX activity and antigen (FIXag) levels. OBJECTIVES: To investiga...

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Detalles Bibliográficos
Autores principales: Branchini, Alessio, Morfini, Massimo, Lunghi, Barbara, Belvini, Donata, Radossi, Paolo, Bury, Loredana, Serino, Maria Luisa, Giordano, Paola, Cultrera, Dorina, Molinari, Angelo Claudio, Napolitano, Mariasanta, Bigagli, Elisabetta, Castaman, Giancarlo, Pinotti, Mirko, Bernardi, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
HAEMOSTASIS
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9298354/
https://www.ncbi.nlm.nih.gov/pubmed/34626083
http://dx.doi.org/10.1111/jth.15552

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9298354/
https://www.ncbi.nlm.nih.gov/pubmed/34626083
http://dx.doi.org/10.1111/jth.15552

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