Thromb Haemost 2006; 95(06): 1031-1032
DOI: 10.1160/TH06-03-0177
Case Report
Schattauer GmbH

First molecular characterization of a patient with combined factor V and factor VII deficiency

Ilana Traynis
1   Stanford University School of Medicine, Department of Pathology, Stanford, California, USA
,
Carol D. Jones
1   Stanford University School of Medicine, Department of Pathology, Stanford, California, USA
,
Constance B. Gibb
2   Department of Pediatrics, Weill Medical College, New York, New York; USA
,
Suchitra S. Acharya
2   Department of Pediatrics, Weill Medical College, New York, New York; USA
,
James L. Zehnder
1   Stanford University School of Medicine, Department of Pathology, Stanford, California, USA
› Institutsangaben
Financial support: This project was funded by the Stanford University Department of Pathology Outreach Fund.
Weitere Informationen

Publikationsverlauf

Received 27. März 2006

Accepted after revision 26. April 2006

Publikationsdatum:
30. November 2017 (online)

 

 
  • References

  • 1 Rotoli B, D’Avino R, Chiurazzi F. Combined factor V and factor VII deficiency. Report of a case with a record on combined defects and considerations on the relevance of partial deficiency of coagulation factors. Acta Haematol 1983; 69: 117-22.
  • 2 Ambriz-Fernandez R, Villasenor A, Reyna MP. et al. Coagulation factors V and VII combined congenital deficiency in a Mexican family: Toledo-Tehuantepec deficiency, a new pathological entity. Arch Invest Med (Mex) 1985; 16: 59-70.
  • 3 Girolami A, Zanon E, Bertomoro A. et al. Combined factor V and factor VII deficiency due to an independent segregation of the two defects. Clin Appl Thromb Hemost 1999; 05: 136-8.
  • 4 Jenny RJ, Pittman DD, Toole JJ. et al. Complete cDNA and derived amino acid sequence of human factor V. Proc Natl Acad Sci USA 1987; 84: 4846-4850.
  • 5 O’Hara PJ, Grant FJ, Haldeman BA. et al. Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation. Proc Natl Acad Sci USA 1987; 84: 5158-62.
  • 6 Giansily-Blazot M, Schved JF. Potential predictors of bleeding risk in inherited factorVII deficiency. Clinical, biological and molecular criteria. Thromb Haemost 2005; 94: 901-6.
  • 7 Peyvandi F, Mannucci PM, Bucciarelli P. et al. A novel polymorphism in intron 1a of human factor VII gene (G73A): study of a healthy Italian population and of 190 young survivors of myocardial infraction. Br J Haematol 2000; 108: 247-53.
  • 8 Mariani G, Herrman FH, Dolce A. et al. Clinical phenotypes and factor VII genotype in congenital factor VII deficiency. Thromb Haemost 2005; 93: 481-7.
  • 9 Furlan CFreguia, Toso R, Pollak ES. et al. Characterization of mild coagulation factor VII deficiency: activity and clearance of the Arg315Trp and Arg315Lys variants in the Cys310-Cys329 loop (c170s). Haematologica 2004; 89: 1504-9.