Associated Papers
Thromboelastometry as an Ancillary Tool for Evaluation of Coagulation Status after rFVIIa Therapy in a Pregnant Woman with Severe Hypoproconvertinemia-A Case Series and Review of the Literature.
Krzyżanowski A et al.
International Journal of Environmental Research and Public Health, 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
Novel mutation in coagulation factor VII (Carmel mutation): Identification and characterization.
Cassel A et al.
Research and Practice in Thrombosis and Haemostasis, 2021
Thrombotic Events in Homozygotes with a Proven or Highly Probable Arg304Gln Factor VII Mutation (FVII Padua)1): Only Limited Replacement Therapy is Needed in Case of Surgery.
Girolami A et al.
Cardiovascular & Hematological Disorders Drug Targets, 2019
Factor VII Deficiency: From Basics to Clinical Laboratory Diagnosis and Patient Management.
Sevenet PO et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017
Conformational Changes of Congenital FVII Variants with Defective Binding to Tissue Factor ARG304GLN (FVII Padua), ARG 304TRP (FVII Nagoya) and ARG79GLN (FVII Shinjo or Tondabayashi).
Cristiani A et al.
International Journal of Biomedical Science : Ijbs, 2013
Homozygous FVII deficiencies with different reactivity towards tissue thromboplastins of different origin.
Girolami A et al.
Hematology (amsterdam, Netherlands), 2012
[Molecular genetics and clinical features of nine patients with inherited coagulation factor VII deficiency].
Jin YH et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2012
Similarities and discrepancies in homozygous factor VII defects due to mutations in the region of residues Met298 to Cys310 (exon 8) in the catalytic domain of factor VII.
Girolami A et al.
Laboratory Hematology : Official Publication of the International Society for Laboratory Hematology, 2011
Worldwide diffusion of FVII Arg304Gln coagulation defect (FVII Padua).
Girolami A et al.
European Journal of Haematology, 2011
The P303T mutation in the human factor VII (FVII) gene alters the conformational state of the enzyme and causes a severe functional deficiency.
Peyvandi F et al.
British Journal of Haematology, 2004
Characterization of mild coagulation factor VII deficiency: activity and clearance of the Arg315Trp and Arg315Lys variants in the Cys310-Cys329 loop (c170s).
Furlan Freguia C et al.
Haematologica, 2004
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
Comparison among natural (Arg304Gln, Arg304Trp) and artificial (Arg290His, Arg290Lys) mutations in coagulation factor VII loops.
Furlan Freguia C et al.
Journal of Thrombosis and Haemostasis : Jth, 2003
[Molecular genetic analysis for a pedigree with severe hereditary coagulation factor VII deficiency].
Ding QL et al.
Zhonghua Nei Ke Za Zhi, 2003
[Inherited coagulation factor VII deficiency caused by double heterozygotic mutations Arg304Gln and Arg304Trp].
Ding QL et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003