Conclusion
This highlights the usefulness of the mRNA analysis for routine diagnosis of such ambiguous cases including the presence of potential cryptic splice sites and clearly demonstrates the causality of the mutations which is also important for the genetic counseling of those families.
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References
El-Maarri O, Herbiniaux U, Graw J, Schröder J, Watzka M, Brackmann H-H, Schramm W, Hanfland P, Schwaab R, Müller CR, Oldenburg J. Detailed RNA analysis in haemophilia A patients with previously undetectable mutations, Journal of Thrombosis and Haemostasis. 2005; 3:332–339.
El-Maarri O, Singer H, Klein C, Watzka M, Herbiniaux U, Brackmann H, Schröder J, Graw J, Müller CR, Schramm W, Schwaab R, Haaf T, Hanfland P, Oldenburg J. Lack of F8 mRNA: a novel mechanism leading to hemophilia A. Blood, 2006;107: 2759–65.
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El-Maarri, O., Klein, C., Junen, J., Schröder, J., Müller, C.R., Oldenburg, J. (2007). Splice Site Mutations Effect on the F8 mRNA Splicing. In: Scharrer, I., Schramm, W. (eds) 36th Hemophilia Symposium Hamburg 2005. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-36715-4_56
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