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OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies.
Sacchetto, Claudia; Peretto, Laura; Baralle, Francisco; Maestri, Iva; Tassi, Francesca; Bernardi, Francesco; van de Graaf, Stan F J; Pagani, Franco; Pinotti, Mirko; Balestra, Dario.
Afiliación
  • Sacchetto C; Department of Life Sciences and Biotechnology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy.
  • Peretto L; Department of Molecular Genetics, University of Maastricht, Maastricht, The Netherlands.
  • Baralle F; Department of Life Sciences and Biotechnology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy.
  • Maestri I; Liver Research Center, Q AREA Science Park, Trieste, Italy.
  • Tassi F; Department of Translational Medicine and for Romagna, Pathology Unit of Pathologic Anatomy, Histology and Cytology, University of Ferrara, Ferrara, Italy.
  • Bernardi F; Department of Life Sciences and Biotechnology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy.
  • van de Graaf SFJ; Department of Life Sciences and Biotechnology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy.
  • Pagani F; Tytgat Institute for Liver and Intestinal Research, Amsterdam Gastroenterology Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.
  • Pinotti M; Human Molecular Genetics, ICGEB - International Center for Genetic Engineering and Biotechnology, Trieste, Italy.
  • Balestra D; Department of Life Sciences and Biotechnology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy. pnm@unife.it.
Mol Med ; 27(1): 157, 2021 12 14.
Article en En | MEDLINE | ID: mdl-34906067
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ornitina Carbamoiltransferasa / Empalme del ARN Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Mol Med Asunto de la revista: BIOLOGIA MOLECULAR Año: 2021 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ornitina Carbamoiltransferasa / Empalme del ARN Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Mol Med Asunto de la revista: BIOLOGIA MOLECULAR Año: 2021 Tipo del documento: Article País de afiliación: Italia