Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency

We report 2 asymptomatic homozygotes for the nonsense p.R462X mutation affecting the carboxy-terminus of coagulation factor VII (FVII, 466 aminoacids). FVII levels of 3–5% and 2.7±0.4% were found in prothrombin time-based and activated factor X (FXa) generation assays with human thromboplastins. Not...

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Hlavní autoři: Branchini, Alessio, Rizzotto, Lara, Mariani, Guglielmo, Napolitano, Mariasanta, Lapecorella, Mario, Giansily-Blaizot, Muriel, Mari, Rosella, Canella, Alessandro, Pinotti, Mirko, Bernardi, Francesco
Médium: Artigo
Jazyk:Inglês
Vydáno: Ferrata Storti Foundation 2012
Témata:
Original Articles and Brief Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3342972/
https://ncbi.nlm.nih.gov/pubmed/22180436
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2011.049403
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