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Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.
Donadon, Irving; Pinotti, Mirko; Rajkowska, Katarzyna; Pianigiani, Giulia; Barbon, Elena; Morini, Elisabetta; Motaln, Helena; Rogelj, Boris; Mingozzi, Federico; Slaugenhaupt, Susan A; Pagani, Franco.
Affiliation
  • Donadon I; Human Molecular Genetics Laboratory, International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.
  • Pinotti M; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.
  • Rajkowska K; Human Molecular Genetics Laboratory, International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.
  • Pianigiani G; Human Molecular Genetics Laboratory, International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.
  • Barbon E; Genethon and INSERM U951, Evry, France.
  • Morini E; Center for Genomic Medicine, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA, USA.
  • Motaln H; Department of Biotechnology, Jozef Stefan Institute, Ljubljana, Slovenia.
  • Rogelj B; Department of Biotechnology, Jozef Stefan Institute, Ljubljana, Slovenia.
  • Mingozzi F; Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.
  • Slaugenhaupt SA; Biomedical Research Institute BRIS, Ljubljana, Slovenia.
  • Pagani F; Genethon and INSERM U951, Evry, France.
Hum Mol Genet ; 27(14): 2466-2476, 2018 07 15.
Article in En | MEDLINE | ID: mdl-29701768
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Therapy / Carrier Proteins / Dysautonomia, Familial / RNA, Small Nuclear Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Italia Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Therapy / Carrier Proteins / Dysautonomia, Familial / RNA, Small Nuclear Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Italia Country of publication: Reino Unido