Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Pro...
Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function
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Publisher
United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Contents
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-causing splicing mutations in coagulation factor IX (FI...
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Full title
Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function
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TN_cdi_plos_journals_1797506063
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1797506063
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ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1006082
