Pathological mechanism and antisense oligonucleotide-mediated rescue of a non-coding variant suppressing factor 9 RNA biogenesis leading to hemophilia B

Loss-of-function mutations in the human coagulation factor 9 (F9) gene lead to hemophilia B. Here, we dissected the consequences and the pathomechanism of a non-coding mutation (c.2545A>G) in the F9 3’ untranslated region. Using wild type and mutant factor IX (FIX) minigenes we revealed that the...

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Detalles Bibliográficos
Autores principales: Krooss, Simon, Werwitzke, Sonja, Kopp, Johannes, Rovai, Alice, Varnholt, Dirk, Wachs, Amelie S., Goyenvalle, Aurelie, Aarstma-Rus, Annemieke, Ott, Michael, Tiede, Andreas, Langemeier, Jörg, Bohne, Jens
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141619/
https://www.ncbi.nlm.nih.gov/pubmed/32267853
http://dx.doi.org/10.1371/journal.pgen.1008690

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141619/
https://www.ncbi.nlm.nih.gov/pubmed/32267853
http://dx.doi.org/10.1371/journal.pgen.1008690

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