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Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function
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2016 |
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Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B
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J. Med. Genet. |
2017 |
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Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations
Campioni, M,
Caruso, P,
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2012 |
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The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation
Bernardi, F,
Pignani, S,
Todaro, A,
Pinotti, M,
Marchi, S,
Pinton, P,
Balestra, D,
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Ferrarese, M,
Branchini, A
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J. Thromb. Haemost. |
2018 |
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Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity
Biondo, F,
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2013 |
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Apparent synonymous mutation F9 c.87A>G causes secretion failure by in-frame mutation with aberrant splicing
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Thromb. Res. |
2019 |
28196793 |
Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations
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Mari, R
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2017 |
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The carboxyl-terminal region of factor IX is essential for its secretion
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1997 |
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Two novel mutations in EGF-like domains of human factor IX dramatically impair intracellular processing and secretion
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