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Canine haemophilia A caused by a mutation leading to a stop codon
  1. R. Mischke, DrMedVet, DipECVIM-CA1,
  2. Ch. Wilhelm, DrRerNat2,
  3. A. Czwalinna, DrRerNat2,
  4. M. Varvenne2,
  5. K. Narten2 and
  6. M. von Depka, MD, PhD2
  1. Small Animal Clinic, University of Veterinary Medicine Hannover, Bünteweg 9, D-30559 Hannover, Germany
  2. Department of Haematology, Hemostasis, Oncology and Stem Cell Transplantation, Hannover Medical School, Carl-Neuberg-Str 1, D-30625 Hannover, Germany
  1. E-mail for correspondence Reinhard.Mischke{at}tiho-hannover.de
  • Dr Wilhelm is also at CeGaT GmbH-Center for Genomics and Transcriptomics, Paul-Ehrlich-Str. 17, D-72076 Tübingen, Germany

  • Dr Czwalinna is also at Labor Wagnerstibbe (amedes group), Georgstr. 50, D-30159 Hannover, Germany

  • M. Varvenne, K. Narten and Dr von Depka are also at the Werlhof-Institute, Schillerstr 23, D-30159 Hannover, Germany

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HAEMOPHILIA A is a mutationally heterogeneous coagulation disorder caused by defects in the large and complex coagulation factor VIII (FVIII) gene. It has been recorded in human beings and various animal species including dogs (Antonarakis 1995, Hough and others 2002, Oldenburg and El-Maarri 2006). The bleeding predisposition associated with haemophilia A results from a deficiency or dysfunction of FVIII, with the severity depending on the amount of residual FVIII activity.

The human gene for FVIII is located on the X chromosome (Xq28) and the gene spans 186 kb across 26 exons, coding for approximately 9 kb mRNA. More than 40 per cent of all cases of severe haemophilia A in human beings are caused by gross rearrangements of the FVIII gene. In addition, sequence deletions, insertions and several hundred single-base substitutions or point mutations have been described of which approximately 100 lead …

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