Associated Papers
Genotype-Phenotype Relationship among 785 Unrelated White Women with Inherited Congenital Factor VII Deficiency: A Three-Center Database Study.
Halimeh S et al.
Journal of Clinical Medicine, 2023
Novel mutation in coagulation factor VII (Carmel mutation): Identification and characterization.
Cassel A et al.
Research and Practice in Thrombosis and Haemostasis, 2021
The EAHAD blood coagulation factor VII variant database.
Giansily-Blaizot M et al.
Human Mutation, 2020
Factor VII Gene Defects: Review of Functional Studies and Their Clinical Implications
Shahbazi S et al.
Iranian Biomedical Journal, 2019
Molecular Characterization of Iranian Patients with Inherited Coagulation Factor VII Deficiency.
S S et al.
Balkan Journal of Medical Genetics : Bjmg, 2017
Factor VII deficiency: a novel missense variant and genotype-phenotype correlation in patients from Southern Italy.
Tiscia G et al.
Human Genome Variation, 2017
Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.
Herrmann FH et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009
Age estimates of ancestral mutations causing factor VII deficiency and Dubin-Johnson syndrome in Iranian and Moroccan Jews are consistent with ancient Jewish migrations.
Mor-Cohen R et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2007
Characterization of a Cys329Gly mutation causing hereditary factor VII deficiency.
Wu Y et al.
Acta Haematologica, 2006
Clinical phenotypes and factor VII genotype in congenital factor VII deficiency.
Mariani G et al.
Thrombosis and Haemostasis, 2005
Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patients.
Fromovich-Amit Y et al.
Journal of Thrombosis and Haemostasis : Jth, 2004
Analysis of biological phenotypes from 42 patients with inherited factor VII deficiency: can biological tests predict the bleeding risk?
Giansily-Blaizot M et al.
Haematologica, 2004
Human factor VII deficiency caused by S339C mutation located adjacent to the specificity pocket of the catalytic domain.
Takamiya O et al.
Clinical and Laboratory Haematology, 2002
A frequent human coagulation Factor VII mutation (A294V, c152) in loop 140s affects the interaction with activators, tissue factor and substrates.
Toso R et al.
The Biochemical Journal, 2002
Molecular analysis of the genotype-phenotype relationship in factor VII deficiency.
Millar DS et al.
Human Genetics, 2000
Twenty two novel mutations of the factor VII gene in factor VII deficiency.
Wulff K et al.
Human Mutation, 2000
Molecular biology and clinical manifestation of hereditary factor VII deficiency.
Herrmann FH et al.
Seminars in Thrombosis and Hemostasis, 2000
Molecular characterization of four novel mutations causing factor VII deficiency.
Tamary H et al.
The Hematology Journal : the Official Journal of the European Haematology Association, 2000
Mechanism underlying factor VII deficiency in Jewish populations with the Ala244Val mutation.
Hunault M et al.
British Journal of Haematology, 1999
Two new missense mutations (P134T and A244V) in the coagulation factor VII gene.
Alshinawi C et al.
Human Mutation, 1998
Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews.
Tamary H et al.
Thrombosis and Haemostasis, 1996
Apparently dominant transmission of a recessive disease: deficiency of factor VII in Iranian Jews.
Tagliabue L et al.
Annali Italiani Di Medicina Interna : Organo Ufficiale Della Societa Italiana Di Medicina Interna, 0
Factor VII deficiency due to compound heterozygosity for Leu-48Pro mutation and a novel Pro260Leu mutation.
Kogiso N et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0