References
Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).Biochemistry 1985; 24: 3736–50.
Bolton-Maggs PH, Pasi KJ. Haemophilias A and B.Lancet 2003; 361: 1801–9.
Giannelli F, Green PM, High KA, et al. Haemophilia B: database of point mutations and short additions and deletions—fourth edition, 1993.Nucleic Acids Res 1993; 21: 3075–87.
Green PM, Giannelli F, Sommer SS, et al. Haemophilia B Mutation Database, version 12. London: King’s College, University of London, 2003.
Camerino G, Grzeschik KH, Jaye M, et al. Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).Proc Natl Acad Sci USA 1984; 81: 498–502.
Ketterling RP, Vielhaber E, Li X, et al. Germline origins in the human F9 gene: frequent G:C→A:T mosaicism and increased mutations with advanced maternal age.Hum Genet 1999; 105: 629–40.
Bauer KA, Kass BL, ten Cate H, Hawiger JJ, Rosenberg RD. Factor IX is activated in vivo by the tissue factor mechanism.Blood 1990; 76: 731–6.
Wulff K, Schroder W, Wehnert W, Herrmann FH. Twenty-five novel mutations of the factor IX gene in haemophilia B.Hum Mutat 1995; 6: 346–8.
Sommer SS. Assessing the underlying pattern of human germline mutations: lessons from the factor IX gene.FASEB J 1992; 6: 2767–74.
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Niceta, M., Fabiano, C., Sammarco, P. et al. A novel nonsense mutation in exon 2 of the factor IX gene resulting in severe haemophilia B. Int Emergency Med 1, 318–320 (2006). https://doi.org/10.1007/BF02934771
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DOI: https://doi.org/10.1007/BF02934771