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Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.
Lombardi, Silvia; Ferrarese, Mattia; Marchi, Saverio; Pinton, Paolo; Pinotti, Mirko; Bernardi, Francesco; Branchini, Alessio.
Affiliation
  • Lombardi S; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.
  • Ferrarese M; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.
  • Marchi S; Department of Morphology, Surgery and Experimental Medicine, Section of Pathology, Oncology and Experimental Biology, University of Ferrara, Ferrara, Italy.
  • Pinton P; Department of Morphology, Surgery and Experimental Medicine, Section of Pathology, Oncology and Experimental Biology, University of Ferrara, Ferrara, Italy.
  • Pinotti M; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.
  • Bernardi F; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.
  • Branchini A; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.
RNA Biol ; 17(2): 254-263, 2020 02.
Article in En | MEDLINE | ID: mdl-31613176
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Biosynthesis / Fabry Disease / Alpha-Galactosidase / Codon, Nonsense / Mutation, Missense / Genes, Dominant Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: RNA Biol Journal subject: BIOLOGIA MOLECULAR Year: 2020 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Biosynthesis / Fabry Disease / Alpha-Galactosidase / Codon, Nonsense / Mutation, Missense / Genes, Dominant Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: RNA Biol Journal subject: BIOLOGIA MOLECULAR Year: 2020 Document type: Article Affiliation country: Country of publication: