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Browsing by Author "Schwaab, Rainer"

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Browsing by Author "Schwaab, Rainer"

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  • Lack of F8 mRNA 
    El Maarri, Osman; Singer, Heike; Klein, Claudia; Watzka, Mathias; Herbiniaux, Brackmann; Schroder, Jorg; Graw, Jochen; Muller, Clemens; Schramm, Wolfgang; Schwaab, Rainer; Haaf, Thomas; Hanfland, Peter; Oldenburg, Johannes (2017-09-13)
    Hemophilia A (HA) is caused by partial or total deficiency of F8 protein activity. In a small group, about 1.8% of patients with HA, no mutation is found in the F8 gene. Among this group, we report here on one patient with ...
  • De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism 
    El Maarri, Osman; Oldenburg, Johannes; Rost, Simone; Leuer, Marco; Olek, Klaus; Muller, Clemen R.; Schwaab, Rainer (2017-09-12)
    The intron 22 inversion represents the most prevalentfactor VIII gene defect in severe hemophilia A, accounting for about 40% of all mutations. It is hypothesized that the inversion mutations occur almost exclusively in ...