Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity

The interplay between impaired protein biosynthesis and/or function caused by missense mutations, particularly in relation to specific protein regions, has been poorly investigated. As model we chose the severe p.Y450C mutation in the carboxyl-terminal region of coagulation factor IX (FIX) and, by e...

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Detalles Bibliográficos
Autores principales: Branchini, Alessio, Campioni, Matteo, Mazzucconi, Maria Gabriella, Biondo, Francesca, Mari, Rosella, Bicocchi, Maria Patrizia, Bernardi, Francesco, Pinotti, Mirko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons Ltd 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778434/
https://www.ncbi.nlm.nih.gov/pubmed/23994528
http://dx.doi.org/10.1016/j.febslet.2013.08.019

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