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Thromb Haemost 2000; 84(06): 935-936
DOI: 10.1055/s-0037-1614151
Commentary
Schattauer GmbH

Hereditary Deficiency of Vitamin K-dependent Coagulation Factors

Benjamin Brenner
1   From the Thrombosis and Hemostasis Unit, Department of Hematology, Rambam Medical Center and Bruce Rappaport Faculty of Medicine, Technion, Haifa, Israel
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Publication History

Publication Date:
13 December 2017 (online)

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  • References

  • 1 Wu SM, Stanley TB, Mutucumarana VP, Stafford DW. Charaterization of the γ-glutamyl carboxylase. Thromb Haemost 1997; 78: 599-604.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 2 McMillan CW, Roberts HR. Congenital combined deficiency of coagulation factors II, VII, IX and X. N Engl J Med 1966; 274: 1313-6.
    CrossrefPubMedGoogle Scholar
  • 3 Goldsmith Jr GH, Pence RE, Ratnoff OD, Adelstein DJ, Furie B. Studies on a family with combined functional deficiencies of vitamin K-dependent coagulation factors. Clin Invest 1982; 69: 1253-60.
    CrossrefPubMedGoogle Scholar
  • 4 Vicente V, Maia R, Alberca I, Tamagnini GPT, Lopez ABorrasca. Congenital deficiency of vitamin K-dependent coagulation factors and protein C. Thromb Haemost 1984; 51: 343-6.
    PubMedGoogle Scholar
  • 5 Brenner B, Tavori S, Zivelin A, Keller CB, Suttie JW, Tatarsky I, Seligsohn U. Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants. Br J Haematol 1990; 75: 537-42.
    CrossrefPubMedGoogle Scholar
  • 6 Pauli RM, Lian JB, Mosher DF, Suttie JW. Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the warfarin embryopathy: Clues to the mechanism of teratogenicity of coumarin derivates. Am J Hum Genet 1987; 41: 566-83.
    PubMedGoogle Scholar
  • 7 Boneh A, Bar-Ziv J. Hereditary deficiency of vitamin K-dependent coagulation factors with skeletal abnormalities. Am J Med Gen 1996; 65: 241-3.
    CrossrefPubMedGoogle Scholar
  • 8 Wu SM, Cheung WF, Frazier LD, Stafford DW. Cloning and expression of the cDNA for human γ-glutamyl carboxylase. Science 1991; 254: 1634-6.
    CrossrefPubMedGoogle Scholar
  • 9 Wu SM, Stafford DW, Frazier LD, High KA, Chu K, Sanchez-Vega B, Solera J. Genomic sequence and transcription start site for the human γ-glutamyl carboxylase. Blood 1997; 89: 4058-62.
    PubMedGoogle Scholar
  • 10 Brenner B, Sanchez-Vega B, Wu SM, Lanir N, Stafford DW, Solera J. A missense mutation in γ-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors. Blood 1998; 92: 4554-9.
    PubMedGoogle Scholar
  • 11 Mutucumarana VP, Stafford DW, Stanley TB, Jin DY, Solera J, Brenner B, Azerad R, Wu SM. Expression and characterization of the naturally occurring mutation L394R in human γ-glutamyl carboxylase. J Biol Chem 2000; 275: 32572-7.
    CrossrefPubMedGoogle Scholar
  • 12 Farah RA, Spronk HMH, Vermeer C, Buchanan GR, Soute BAM. A novel mutation in the carboxlase gene resulting in congenital combined deficiency of vitamin K-dependent blood coagulation factors. The Hematology Journal. 2000 01. suppl. 1 (abst no. 226).
    PubMedGoogle Scholar
  • 13 Oldenburg J, von Brederlow B, Fregin A, Rost S, Wolz W, Eberl W, Eber S, Lenz E, Schwaab R, Brackmann HH, Harbrecht U, Schurgers LJ, Vermeer C, Mueller CR. Congenital deficiency of vitamin K-dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase-complex. Thromb Haemost 2000; 84: 937-41.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 14 Zhu A, Zheng X, Westrick R, Furrie BC, Furie B, Kaufman RJ, Ginsburg D. The generation of mice genetically deficient in γ-carboxylase by gene targeting. Blood. 1997 90. suppl 1: abst 292a.
    PubMedGoogle Scholar
  • 15 Romero EE, Velazgues-estades LJ, Deo R, Schapiro B, Roth DA. Cloning of rat vitamin K-dependent gamma-glutamyl carboxylase and developmentally regulated gene expression in postimplantation embryos. Exp Cell Res 1998; 243: 334-46.
    CrossrefPubMedGoogle Scholar
  • 16 Soute BAM, Ulrich MMW, Watson ADJ, Maddison JE, Ebberink RHM, Vermmer C. Congenital deficiency of all vitamin K-dependent blood coagulation factors due to a defective vitamin K-dependent carboxylase in Devon Rex cats. Thromb Haemost 1992; 68: 521-5.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 17 Baker DC, Robbe SL, Jacobson L, Manco-Johnson MJ, Holler L, Lefkowitz J. hereditary deficiency of vitamin K-dependent coagulation factors in Rambouillet sheep. Blood Coagul Fibrinolysis 1999; 10: 75-80.
    CrossrefPubMedGoogle Scholar