The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII

BACKGROUND: Congenital coagulation factor (F) VII deficiency is a rare bleeding disorder caused by mutations in the F7 gene. The missense factor FVII variant p.Q160R is the disease-causing mutation in all Norwegian FVII deficient patients and results in reduced biological activity and antigen levels...

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Detalles Bibliográficos
Autores principales: Andersen, Elisabeth, Chollet, Maria Eugenia, Baroni, Marcello, Pinotti, Mirko, Bernardi, Francesco, Skarpen, Ellen, Sandset, Per Morten, Skretting, Grethe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6712599/
https://www.ncbi.nlm.nih.gov/pubmed/31467667
http://dx.doi.org/10.1186/s13578-019-0333-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6712599/
https://www.ncbi.nlm.nih.gov/pubmed/31467667
http://dx.doi.org/10.1186/s13578-019-0333-8

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