SEARCH

SEARCH BY CITATION

References

  • Attali, O., Vinciguerra, C., Trzeciak, M.C., Durin, A., Pernod, G., Gay, V., Menart, C., Sobas, F., Dechavanne, M. & Negrier, C. (1999) Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations. Thrombosis and Haemostasis, 82, 14371442.
  • Becker, J., Schwaab, R., Moller Taube, A., Schwaab, U., Schmidt, W., Brackmann, H.H., Grimm, T., Olek, K. & Oldenburg, J. (1996) Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. American Journal of Human Genetics, 58, 657670.
  • Camerino, G., Oberle, I., Drayna, D. & Mandel, J.L. (1985) A new MspI restriction fragment length polymorphism in the hemophilia B locus. Human Genetics, 71, 7981.
  • Chen, S.H., Zhang, M., Lovrien, E.W., Scott, C.R. & Thompson, A.R. (1991) CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series. Human Genetics, 87, 177182.
  • Cooper, D.N. & Krawczak, M. (1990) The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Human Genetics, 85, 5574.
  • Di Scipio, R.G., Hermodsson, M.A., Yates, S.G. & Davie, E.W. (1977) A comparison of human prothrombin, factor IX (Christmas factro), factor X (Stuart factor) and protein S. Biochemistry, 16, 15281538.
  • Ferrari, N. & Rizza, C. (1986) Estimation of genetic risks of carriership for possible carriers of Christmas disease (hemophilia B). Brazilian Journal of Genetics, 9, 8799.
  • Giannelli, F., Choo, K.H., Rees, D.J., Boyd, Y., Rizza, C.R. & Brownlee, G.G. (1983) Gene deletions in patients with haemophilia B and anti-factor IX antibodies. Nature, 303, 181182.
  • Giannelli, F., Anson, D.S., Choo, K.H., Rees, D.J., Winship, P.R., Ferrari, N., Rizza, C.R. & Brownlee, G.G. (1984) Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency). Lancet, 1, 239241.
  • Giannelli, F., Green, P.M., Sommer, S.S., Poon, M., Ludwig, M., Schwaab, R., Reitsma, P.H., Goossens, M., Yoshioka, A., Figueiredo, M.S. & Brownlee, G.G. (1998) Haemophilia B: database of point mutations and short additions and deletions – eighth edition. Nucleic Acids Research, 26, 265268.DOI: 10.1093/nar/26.1.265
  • Gill, J.C. (1999) The role of genetics in inhibitor formation. Thrombosis and Haemostasis, 82, 500504.
  • Graham, J.B., Kunkel, G.R., Tennyson, G.S., Lord, S.T. & Fowlkes, D.M. (1989) The Malmo polymorphism of factor IX: establishing the genotypes by rapid analysis of DNA. Blood, 73, 21042107.
  • Green, P.M., Montandon, A.J., Bentley, D.R., Ljung, R., Nilsson, I.M. & Giannelli, F.G. (1990) The incidence and distribution of CpG-TpG transitions in the coagulation FIX gene. A fresh look at CpG mutational hot-spots. Nucleic Acids Research, 18, 32273231.
  • Green, P.M., Saad, S., Lewis, C.M. & Giannelli, F. (1999) Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B. American Journal of Human Genetics, 65, 15721579.
  • Haldane, J. (1935) The mutation rate of the gene for haemophilia and its segregation ratios male and females. Annals of Eugenet (London), 13, 262271.
  • Hay, C.W., Robertson, K.A., Yong, S.L., Thompson, A.R., Growe, G.H. & MacGillivray, R.T. (1986) Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status. Blood, 67, 15081511.
  • Jaloma-Cruz, A.R., Scaringe, W.A., Drost, J.B., Roberts, S., Li, X., Barros-Nunez, P., Figuera, L.E., Rivas, F., Cantu, J.M. & Sommer, S.S. (2000) Nine independent F9 mutations in the Mexican hemophilia B population: nonrandom recurrences of point mutation events in the human germline. Human Mutation (Online), 15, 116117.
  • Ketterling, R.P., Bottema, C.D., Phillips, J.A. & Sommer, S.S. (1991) Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States. Genomics, 10, 10931096.
  • Ketterling, R.P., Vielhaber, E.L., Lind, T.J., Thorland, E.C. & Sommer, S.S. (1994) The rates and patterns of deletions in the human factor IX gene. American Journal of Human Genetics, 54, 201213.
  • Ketterling, R.P., Vielhaber, E., Li, X., Drost, J., Schaid, D.J., Kasper, C.K., Phillips, 3rd, J.A., Koerper, M.A., Kim, H., Sexauer, C., Gruppo, R., Ambriz, R., Paredes, R. & Sommer, S.S. (1999) Germline origins in the human F9 gene: frequent G:C–>A:T mosaicism and increased mutations with advanced maternal age. Human Genetics, 105, 629640.DOI: 10.1007/s004390051155
  • Kling, S., Coffey, A., Ljung, R., Sjörin, E., Nilsson, I.M., Holmberg, L. & Gianelli, F. (1991) Moderate haemophilia B in a female carrier caused by preferential inactivity of paternal X chromosome. European Journal of Haematology, 47, 257261.
  • Kling, S., Ljung, R., Sjorin, E., Montandon, J., Green, P., Giannelli, F. & Nilsson, I.M. (1992) Origin of mutation in sporadic cases of haemophilia-B. European Journal of Haematology, 48, 142145.
  • Ljung, R.C. (1995) Gene mutations and inhibitor formation in patients with hemophilia B. Acta Haematologica, 94, 4952.
  • Montandon, A.J., Green, P.M., Bentley, D.R., Ljung, R., Nilsson, I.M. & Giannelli, F. (1990) Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD). Human Genetics, 85, 200204.
  • Montandon, A.J., Green, P.M., Bentley, D.R., Ljung, R., Kling, S., Nilsson, I.M. & Giannelli, F. (1992) Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden. Human Genetics, 89, 319322.
  • Nilsson, I. (1974) Haemorrhagic and Thrombotic Disorders, pp. 220226. John Wiley & Sons, London.
  • Saad, S., Rowley, G., Tagliavacca, L., Green, P.M. & Giannelli, F. (1994) First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres. Thrombosis and Haemostasis, 71, 563570.
  • Shapiro, S. (1979) Antibodies to blood coagulation factors. Clinical Haematology, 8, 207214.
  • Sultan, Y. (1992) Prevalance of inhibitors in a population of 3435 hemophilia patients in France. Thrombosis and Haemostasis, 67, 600602.
  • Thompson, A.R. (1991) Molecular biology of the hemophilias. Progress in Hemostasis and Thrombosis, 10, 175214.
  • Veltkamp, J.J., Meilof, J., Remmelts, H.G., Vlerk, D.V. & Loeliger, E.A. (1970) Another genetic variant of haemophilia B: haemophilia B Leyden. Scandinavian Journal of Haematology, 7, 8290.
  • Wadelius, C., Blomback, M. & Pettersson, U. (1988) Molecular studies of haemophilia B in Sweden. Identification of patients with total deletion of the factor IX gene and without inhibitory antibodies. Human Genetics, 81, 1317.
  • Wallmark, A., Ljung, R., Nilsson, I.M., Holmberg, L., Hedner, U., Lindvall, M. & Sjogren, H.O. (1985) Polymorphism of normal factor IX detected by mouse monoclonal antibodies. Proceedings of the National Academy of Sciences of the United States of America, 82, 38393843.
  • Winship, P.R., Anson, D.S., Rizza, C.R. & Brownlee, G.G. (1984) Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms. Nucleic Acids Research, 12, 88618872.
  • Winship, P.R., Rees, D.J. & Alkan, M. (1989) Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers. Lancet, 1, 631634.
  • Yoshitake, S., Schach, B.G., Foster, D.C., Davie, E.W. & Kurachi, K. (1985) Nucleotide sequence of the gene for factor IX (antihaemophilic B). Biochemistry, 24, 37363750.