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

Cell & Bioscience

Aug 27, 2019

Elisabeth AndersenGrethe Skretting

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Abstract

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 level...read more

Mentioned in this Paper

Antigens
Hemorrhage
Plasma
Recombinant Proteins
Viral Structural Proteins
Benzeneboronic acid
Factor VII clotting antigen
Intracellular
Molecular Chaperones
Phenylbutyrate
6
2
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The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII

Cell & Bioscience

Aug 27, 2019

Elisabeth AndersenGrethe Skretting

PMID: 31467667

DOI: 10.1186/s13578-019-0333-8

Abstract

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 level...read more

Mentioned in this Paper

Antigens
Hemorrhage
Plasma
Recombinant Proteins
Viral Structural Proteins
6
2

Related Papers

Paper Details
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