Splice Site Mutations Effect on the F8 mRNA Splicing

作者: O El-Maarri , C Klein , J Junen , J Schröder , CR Müller

DOI: 10.1007/978-3-540-36715-4_56

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摘要: This highlights the usefulness of mRNA analysis for routine diagnosis such ambiguous cases including presence potential cryptic splice sites and clearly demonstrates causality mutations which is also important genetic counseling those families.

参考文章(2)
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Osman El-Maarri, Heike Singer, Claudia Klein, Matthias Watzka, Ursula Herbiniaux, Hans H Brackmann, Jörg Schröder, Jochen Graw, Clemens R Müller, Wolfgang Schramm, Rainer Schwaab, Thomas Haaf, Peter Hanfland, Johannes Oldenburg, None, Lack of F8 mRNA: a novel mechanism leading to hemophilia A. Blood. ,vol. 107, pp. 2759- 2765 ,(2006) , 10.1182/BLOOD-2005-09-3702