Subscribe to RSS
Please copy the URL and add it into your RSS Feed Reader.
https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00034925.xml
Download PDF
Hamostaseologie 2010; 30(S 01): S158-S161
DOI: 10.1055/s-0037-1619103
DOI: 10.1055/s-0037-1619103
Communication
Long-range PCR screening for large rearrangements in the FVIII gene in patients without detectable mutations in the coding sequence
Umfassendes PCR-Screening von großen Neuordnungen im FVIII-Gen bei Patienten ohne nachweisbare DNA-SequenzänderungAuthors
We would like to thank the patients and the family members for participating in this study. This project is supported by a DFG grant (EL499/2–1) to E.O. and O.J.
Further Information
Publication History
Publication Date:
23 December 2017 (online)
-
References
- 1 Oldenburg J, El-Maarri O. New insight into the molecular basis of hemophilia A. Int J Hematol 2006; 83: 96-102.
- 2 El-Maarri O, Herbiniaux U, Graw J. et al. Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene. J Thromb Haemost 2005; 03: 332-339.
- 3 El-Maarri O, Singer H, Klein C. et al. Lack of F8 mRNA: a novel mechanism leading to hemophilia A. Blood 2006; 107: 2759-2765.
- 4 Rossettia LC, Radic CP, Larripa IB. et al. Genotyping the Hemophilia Inversion Hotspot by Use of Inverse PCR. Clin Chem 2005; 51: 1154-1158.
- 5 Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 168-174.
- 6 Mazurier C, Hilbert L. Type 2N von Willebrand disease. Curr Hematol Rep 2005; 04: 350-358.