The Factor VII Variant p.A354V-p.P464Hfs: Clinical versus Intracellular and Biochemical Phenotypes Induced by Chemical Chaperones

The Factor VII Variant p.A354V-p.P464Hfs: Clinical versus Intracellular and Biochemical Phenotypes Induced by Chemical Chaperones

(1) Background: Congenital factor (F) VII deficiency is caused by mutations in the <i>F7</i> gene. Patients with modest differences in FVII levels may display large differences in clinical severity. The variant p.A354V-p.P464Hfs is associated with reduced FVII antigen and activity. The a...

Full description

Bibliographic Details
Main Authors: Elisabeth Andersen, Maria Eugenia Chollet, Francesco Bernardi, Alessio Branchini, Marcello Baroni, Guglielmo Mariani, Alberto Dolce, Angelika Batorova, Ellen Skarpen, Christiane Filion Myklebust, Grethe Skretting, Per Morten Sandset
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Applied Sciences
Subjects:
factor VII deficiency
chemical chaperones
mutations
protein misfolding
endoplasmic reticulum
trafficking
Online Access:https://www.mdpi.com/2076-3417/11/13/5762

Internet

https://www.mdpi.com/2076-3417/11/13/5762

Similar Items