Article
Clinical manifestation of hemophilia A in the absence of mutations in the F8 gene that encodes FVIII: role of microRNAs.
Transfusion - 1 Feb 2020
Jankowska Katarzyna I, McGill Joseph, Pezeshkpoor Behnaz, Oldenburg Johannes, Atreya Chintamani D, Sauna Zuben E
Abstract excerpt
BACKGROUND: Hemophilia A (HA) is associated with mutations in the F8 gene that expresses factor VIII (FVIII). Unexpectedly, HA also manifests in a small subset of individuals with no mutations (exonic or intronic) in their F8 gene. MicroRNAs (miRNAs) cause translational interference, affecting protein quality and stoichiometry. Here, by analyzing miRNAs of two patients from this subset, we evaluated miRNA-based...
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