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Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.
Lombardi, Silvia; Leo, Gabriele; Merlin, Simone; Follenzi, Antonia; McVey, John H; Maestri, Iva; Bernardi, Francesco; Pinotti, Mirko; Balestra, Dario.
Afiliación
  • Lombardi S; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara 44121, Italy.
  • Leo G; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara 44121, Italy.
  • Merlin S; Department of Health Sciences, University of Piemonte Orientale, Novara 28100, Italy.
  • Follenzi A; Department of Health Sciences, University of Piemonte Orientale, Novara 28100, Italy.
  • McVey JH; School of Bioscience and Medicine, University of Surrey, Guildford GU2 7XH, UK.
  • Maestri I; Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara 44123, Italy.
  • Bernardi F; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara 44121, Italy.
  • Pinotti M; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara 44121, Italy. Electronic address: pnm@unife.it.
  • Balestra D; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara 44121, Italy. Electronic address: blsdra@unife.it.
Am J Hum Genet ; 108(8): 1512-1525, 2021 08 05.
Article en En | MEDLINE | ID: mdl-34242570
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Factor VIII / ARN Mensajero / Empalme del ARN / Exones / Hemofilia A / Mutación Tipo de estudio: Prognostic_studies / Qualitative_research Límite: Humans Idioma: En Revista: Am J Hum Genet 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: Factor VIII / ARN Mensajero / Empalme del ARN / Exones / Hemofilia A / Mutación Tipo de estudio: Prognostic_studies / Qualitative_research Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Italia