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References

  • Alexander, B., Goldstein, R., Landwehr, G., Cook, C.D., Addelson, E. & Wilson, C. (1951) Congenital SPCA deficiency: a hitherto unrecognized defect with hemorrhage rectified by serum and serum factors. Journal of Clinical Investigation, 30, 596.
  • Antonarakis, S.E. (1998) Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Human Mutation, 11, 13.
  • Arbini, A.A., Pollak, E.S., Bayleran, J.K., High, K.A. & Bauer, K.A. (1997) Severe factor VII deficiency due to a mutation disrupting a hepatocyte nuclear factor 4 binding site in the factor VII promoter. Blood, 89, 176182.
  • Ariffin, H., Millar, D.S., Cooper, D.N., Chow, T. & Lin, H.P. (2003) Prenatal exclusion of severe factor VII deficiency. Journal of Pediatric Hematology/Oncology, 25, 418420.
  • Banner, D.W., D'Arcy, A., Chène, C., Winkler, F.K., Guha, A., Konigsberg, W.H., Nemerson, Y. & Kirchhofer, D. (1996) The crystal structure of the complex of blood coagulation factor VIIa with soluble tissue factor. Nature, 380, 4146.
  • Bernardi, F., Marchetti, G., Pinotti, M., Arcieri, P., Baroncini, C., Papacchini, M., Zepponi, E., Ursicino, N., Chiarotti, F. & Mariani, G. (1996) Factor VII gene polymorphisms contribute about one third of the factor VII level variation in plasma. Arteriosclerosis, Thrombosis, and Vascular Biology, 16, 7276.
  • Borensztajn, K., Chafa, O., Alhenc-Gelas, M., Salha, S., Reghis, A., Fischer, A.M. & Tapon-Bretaudiere, J. (2002) Characterization of two novel splice site mutations in human factor VII gene causing severe plasma factor VII deficiency and bleeding diathesis. British Journal of Haematology, 117, 168171.
  • Chaing, S., Clarke, B., Sridhara, S., Chu, K., Friedman, P., VanDusen, W., Roberts, H.R., Blajchman, M., Monroe, D.M. & High, K.A. (1994) Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor. Blood, 83, 35243535.
  • Davidson, C.J., Hirt, R.P., Lal, K., Snell, P., Elgar, G., Tuddenham, E.G.D. & McVey, J.H. (2003) Molecular evolution of the vertebrate blood coagulation network. Thrombosis and Haemostasis, 89, 420428.
  • Giansily-Blaizot, M., Aguilar-Martinez, P., Mazurier, C., Cneude, F., Goudemand, J., Schved, J.F. & De Martinville, B. (2001) Prenatal diagnosis of severe factor VII deficiency using mutation detection and linkage analysis. British Journal of Haematology, 112, 251252.
  • Giansily-Blaizot, M., Aguilar-Martinez, P., Briquel, M.E., D'Oiron, R., De Maistre, E., Epelbaum, S. & Schved, J.F. (2003) Two novel cases of cerebral haemorrhages at the neonatal period associated with inherited factor VII deficiency, one of them revealing a new nonsense mutation (Ser52Stop). Blood Coagulation and Fibrinolysis, 14, 217220.
  • Herrmann, F.H., Wulff, K., Auberger, K., Aumann, V., Bergmann, F., Bergmann, K., Bratanoff, E., Franke, D., Grundeis, M., Kreuz, W., Lenk, H., Losonczy, H., Maak, B., Marx, G., Mauz-Korholz, C., Pollmann, H., Serban, M., Sutor, A., Syrbe, G., Vogel, G., Weinstock, N., Wenzel, E. & Wolf, K. (2000) Molecular biology and clinical manifestation of hereditary factor VII deficiency. Seminars in Thrombosis and Hemostasis, 26, 393400.
  • Kemball-Cook, G., Johnson, D.J.D., Tuddenham, E.G.D. & Harlos, K. (1999) Crystal structure of active site-inhibited human coagulation factor VIIa (des-Gla). Journal of Structural Biology, 127, 213223.
  • McVey, J.H., Boswell, E.J., Takamiya, O., Tamagnini, G., Valente, V., Fidalgo, T., Layton, M. & Tuddenham, E.G.D. (1998) Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency. Blood, 92, 920926.
  • McVey, J.H., Boswell, E., Mumford, A.D., Kemball-Cook, G. & Tuddenham, E.G. (2001) Factor VII deficiency and the FVII mutation database. Human Mutation, 17, 317.
  • Perry, D.J. (2002) Factor VII deficiency. British Journal of Haematology, 118, 689700.
  • Takamiya, O. & Okimoto, Y. (2001) Severe factor VII deficiency with recurrent intracranial haemorrhages owing to double heterozygosity for a splice site mutation of an IVS4 and a novel nonsense mutation in exon 8 (Gln211–>Term). British Journal of Haematology, 114, 369374.
  • Tamary, H., Fromovich-Amit, Y., Shalmon, L., Zaizov, R., Yaniv, I., Klar, A., Peretz, H., Brenner, B., Lanir, N., Zivelin, A. & Seligsohn, U. (2000) Molecular characterization of four novel mutations causing factor VII deficiency. Hematology Journal, 1, 382389.
  • Thompson, J.D., Higgins, D.G. & Gibson, T.J. (1994) CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Research, 22, 46734680.
  • Wulff, K. & Herrmann, F.H. (2000) Twenty two novel mutations of the factor VII gene in factor VII deficiency. Human Mutation, 15, 489496.