Associated Papers
Factor VII Deficiency Due to Compound Heterozygosity for the p.Leu13Pro Mutation and a Novel Mutation in the HNF4 Binding Region (-58G>C) in the F7 Promoter.
Osaki K et al.
The Kurume Medical Journal, 2022
A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency.
Hu YN et al.
The Journal of Gene Medicine, 2022
Factor VII deficiency: Unveiling the cellular and molecular mechanisms underlying three model alterations of the enzyme catalytic domain.
Chollet ME et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018
Compound heterozygous mutations (p.Leu13Pro and p.Tyr294*) associated with factor VII deficiency cause impaired secretion through ineffective translocation and extensive intracellular degradation of factor VII.
Suzuki K et al.
Thrombosis Research, 2013
Factor VII deficiency and the FVII mutation database.
McVey JH et al.
Human Mutation, 2001
Select a paper to view details