Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function

Mutations that result in amino acid changes can affect both pre-mRNA splicing and protein function. Understanding the combined effect is essential for correct diagnosis and for establishing the most appropriate therapeutic strategy at the molecular level. We have identified a series of disease-causi...

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Bibliographic Details
Published in:PLoS Genet
Main Authors: Tajnik, Mojca, Rogalska, Malgorzata Ewa, Bussani, Erica, Barbon, Elena, Balestra, Dario, Pinotti, Mirko, Pagani, Franco
Format: Artigo
Language:Inglês
Published: Public Library of Science 2016
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4882169/
https://ncbi.nlm.nih.gov/pubmed/27227676
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006082
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