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Thromb Haemost 2002; 88(02): 357-360
DOI: 10.1055/s-0037-1613212
Letters to the Editor
Schattauer GmbH

11 Hemophilia A Patients without Mutations in the Factor VIII Encoding Gene

N. Klopp   *
1   GSF-National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, Germany
,
J. Oldenburg
2   Institute of Transfusion Medicine and Immune Haematology of the DRK Blood Donor Service, Frankfurt, Germany; and Hemophilia-Center and Institute of Transfusion Medicine, University of Bonn, Bonn, Germany
,
C. Uen
1   GSF-National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, Germany
,
R. Schneppenheim
3   University Children’s Hospital Hamburg-Eppendorf, Department of Paediatric Haematology and Oncology, Hamburg, Germany
,
J. Graw
1   GSF-National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, Germany
› Author Affiliations
Further Information

Publication History

Received 11 February 2002

Accepted after resubmission 22 April 2002

Publication Date:
07 December 2017 (online)

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* Present address: GSF-National Research Center for Environment and Health, Institute of Epidemiology, D-85764 Neuherberg, Germany


 

  • References

  • 1 Naylor JA, Green PM, Pizza CR, Gianelli F. Analysis of factor VIII mRNA levels reveals defects in everyone of 28 haemophilia A patients. Hum Mol Genet 1993; 02: 11-7.
    CrossrefPubMedGoogle Scholar
  • 2 Lakich D, Kazazian Jr HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene as a common cause of severe hemophilia A. Nat Genet 1993; 05: 236-41.
    CrossrefPubMedGoogle Scholar
  • 3 Schwaab R, Oldenburg J, Lalloz MRA, Schwaab U, Pemberton S, Hanfland P, Brackmann H-H, Tuddenham EGD, Michaelides K. Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein. Hum Genet 1997; 101: 323-32.
    CrossrefPubMedGoogle Scholar
  • 4 Oldenburg J. Mutation profiling in Haemophilia A. Thromb Haemost 2001; 85: 577-9.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 5 Bagnall RD, Waseem N, Green PM, Gianelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 168-74.
    CrossrefPubMedGoogle Scholar
  • 6 Liu ML, Shen BW, Nakaya S, Pratt KP, Fujikawa K, Davie EW, Stoddard BL, Thompson AR. Hemophilic factor VIII C1- and C2-domain missens mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure. Blood 2000; 96: 979-87.
    PubMedGoogle Scholar
  • 7 Tarn W-Y, Steitz JA. Pre-mRNA splicing: the discovery of a new spliceosome doubles the challenge. Trends Biochem 1997; 22: 132-7.
    CrossrefPubMedGoogle Scholar
  • 8 Vidal F, Frassac E, Altisent C, Puig L, Gallardo D. Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutation. Thromb Haemost 2001; 85: 580-3.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 9 Nichols WC, Seligsohn U, Zivelin A, Terry VH, Hertel CE, Wheatley MA, Moussalli MJ, Hauri H-P, Ciavarella N, Kaufman RJ, Ginsburg D. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell 1998; 93: 61-70.
    CrossrefPubMedGoogle Scholar
  • 10 Becker J, Schwaab R, Möller-Taube A, Schwaab U, Schmidt W, Brackmann HH, Grimm T, Olek K, Oldenburg J. 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. Am J Hum Genet 1996; 58: 657-70.
    PubMedGoogle Scholar
  • 11 Oldenburg J, Schwaab R. Molecular biology of blood coagulation. Sem Thromb Hemost 2001; 27: 313-24.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 12 Schneppenheim R, Budde U, Krey S, Drewke E, Bergmann F, Lechler E, Oldenburg J, Schwaab R. Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type I. Thromb Haemostas 1996; 76: 598-602.
    PubMedGoogle Scholar
  • 13 Schneppenheim R, Budde U, Obser T, Brassard J, Mainusch K, Ruggeri ZM, Schneppenheim S, Oldenburg J, Schwaab R. Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease. Blood 2001; 97: 2059-66.
    CrossrefPubMedGoogle Scholar
  • 14 Leuer M, Oldenburg J, Lavergne JM, Ludwig M, Fregin A, Eigel A, Ljung R, Goodeve A, Peake I, Olek K. Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet 2001; 69: 75-87.
    CrossrefPubMedGoogle Scholar