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

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...

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Bibliographic Details
Main Authors: Simon Krooss, Sonja Werwitzke, Johannes Kopp, Alice Rovai, Dirk Varnholt, Amelie S Wachs, Aurelie Goyenvalle, Annemieke Aarstma-Rus, Michael Ott, Andreas Tiede, Jörg Langemeier, Jens Bohne
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-04-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1008690

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