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Intron 22 homologous regions are implicated in exons 1–22 duplications of the F8 gene

The intron 22 inversion found in up to 50% of severe hemophilia A patients results from a recombination between three intron 22 homologous copies (int22h). This study evaluated the implication of these copies in the formation of extended duplications comprising exons 1–22 of the factor 8 (F8) gene a...

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Autors principals: Lannoy, Nathalie, Grisart, Bernard, Eeckhoudt, Stéphane, Verellen-Dumoulin, Christine, Lambert, Catherine, Vikkula, Miikka, Hermans, Cédric
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2013
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3746252/
https://ncbi.nlm.nih.gov/pubmed/23299923
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.275
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