Three Novel Microdeletions and the First Insertion / Deletion in Patients with Factor X Deficiency

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34th Hemophilia Symposium

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References

  1. Chuzhanova, N.A., Anassis E.J., Ball, E.V., Krawczak, M. and Cooper, D.N. (2003) Meta-anlysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity. Human Mutation, 28, 28–44

    Google Scholar 

  2. Cooper D. N. and Krawczak M. (1995) Human Gene Mutation. BIOS Scientific Publishers, Oxford

    Google Scholar 

  3. Miller, M., Dykes, D.D., Polesky, H. F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research, 16, 12

    Google Scholar 

  4. Millar, D. S., Elliston, L., Deex, P., Krawczak, M., Wacay, A. I., Renaud, J., Nieuwenhuis, H. K., Bolton-Maggs, P., Mannucci, P. M., Reventer, J. C., Cacchia, P., Pasi, K. J., Layton, D. M. and Cooper, D. N. (2000) Molecular analysis of genotype-phenotype relationship in factor X deficiency. Human Genetics, 106, 249–257

    PubMed  CAS  Google Scholar 

  5. Perry, D.J. (2002) Factor X deficiency. Blood Reviews, 16, 97–110

    PubMed  Google Scholar 

  6. Reddy, S.V., Zhou, Z. Q., Rao, K. J. (1989) Molecular characterization of human factor X San Antonio. Blood, 74, 1486–1490

    PubMed  CAS  Google Scholar 

  7. Simioni, P., Vionello, F., Kalafatis, M. et al. (2001) A dysfunctional factor X (factor X San Giovanni Rotund) present at homozygous and double heterozygous level: identification of a novel microdeletion (delC556) and missense mutation (Lys(408)-Asn) in the factor X gene. A study of an Italian family. Thrombosis Research, 101, 219–230

    Article  PubMed  CAS  Google Scholar 

  8. Tuddenham, E.G.D. and Cooper, N.D. (1994) The Molecular Genetics of Haemostasis and its Inherited Disorders. Oxford University press, Oxford.

    Google Scholar 

  9. Wilkens, M. and Krishnaswamy, S. (2002) The contribution factor Xa to exposit-dependent substrate recognition by prothrombinase. Journal of Biological Chemistry, 277, 9366–9374

    Article  PubMed  CAS  Google Scholar 

  10. Wulff, K., Ebener, U., Wehnert, H-S., Ward, P. A., Reuner, U., Hiebsch, W., Herrmann, F. H., Wehnert, M. (1997) Direct molecular genetics diagnosis and heterozygotes identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis. Disease Markers, 13, 77–86

    PubMed  CAS  Google Scholar 

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© 2005 Springer Medizin Verlag Heidelberg

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Wulff, K. et al. (2005). Three Novel Microdeletions and the First Insertion / Deletion in Patients with Factor X Deficiency. In: Scharrer, I., Schramm, W. (eds) 34th Hemophilia Symposium. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-27022-1_64

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  • DOI: https://doi.org/10.1007/3-540-27022-1_64

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-22886-8

  • Online ISBN: 978-3-540-27022-5

  • eBook Packages: MedicineMedicine (R0)

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