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Article

Activation of Endoplasmic Reticulum Stress and Unfolded Protein Response in Congenital Factor VII Deficiency.

Thrombosis and haemostasis - 1 Apr 2018

Andersen Elisabeth, Chollet Maria Eugenia, Myklebust Christiane Filion, Pinotti Mirko, Bernardi Francesco, Chuansumrit Ampaiwan, Skarpen Ellen, Sandset Per Morten, Skretting Grethe

Abstract excerpt

Congenital factor (F) VII deficiency is a bleeding disorder caused by a heterogeneous pattern of mutations in the F7 gene. Protein misfolding due to mutations is a strong candidate mechanism to produce the highly represented type I FVII deficiency forms, characterized by a concomitant deficiency of FVII antigen and activity. Misfolded proteins can accumulate within the endoplasmic reticulum (ER) causing ER stress...

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PMID: 29618153
DOI: 10.1055/s-0038-1637690

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