[Molecular biologic study and the factor VIII gene in hemophilia A].

@article{Bock1996MolecularBS,
  title={[Molecular biologic study and the factor VIII gene in hemophilia A].},
  author={Ildiko Bock and B{\'e}la Melegh and Agnes Nagy and Hajna Losonczy and B{\'e}la Csete and W. Christopher Schroeder and M{\'a}ria Kard{\'o}s and Lajos Istv{\'a}n and Rita J{\'a}ger and Anita Toth and H Falko and Gyula M{\'o}zsik},
  journal={Orvosi hetilap},
  year={1996},
  volume={137 46},
  pages={2573-5}
}
Results of inversion in the intron 22 region of the VIII factor gene studied by Southern blot are presented. Inversion was found in 20 of 46 patients. In 14 cases (70%) distal and in 6 cases (30%) proximal type of inversion was detected. The significance of the positive result in genetic counseling and in presymptomatic diagnosis of Haemophilia A is emphasized.