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Functional correction by antisense therapy of a splicing mutation in the GALT gene.
Coelho, Ana I; Lourenço, Sílvia; Trabuco, Matilde; Silva, Maria João; Oliveira, Anabela; Gaspar, Ana; Diogo, Luísa; Tavares de Almeida, Isabel; Vicente, João B; Rivera, Isabel.
Afiliação
  • Coelho AI; Metabolism & Genetics Group, Research Institute for Medicines and Pharmaceutical Sciences (iMed.UL), Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal.
  • Lourenço S; Metabolism & Genetics Group, Research Institute for Medicines and Pharmaceutical Sciences (iMed.UL), Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal.
  • Trabuco M; Metabolism & Genetics Group, Research Institute for Medicines and Pharmaceutical Sciences (iMed.UL), Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal.
  • Silva MJ; 1] Metabolism & Genetics Group, Research Institute for Medicines and Pharmaceutical Sciences (iMed.UL), Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal [2] Department of Biochemistry and Human Biology, Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal.
  • Oliveira A; Department of Medicine, Santa Maria Hospital, Lisbon, Portugal.
  • Gaspar A; Department of Pediatrics, Santa Maria Hospital, Lisbon, Portugal.
  • Diogo L; Metabolic Clinics, Pediatric Hospital, CHUC, Coimbra, Portugal.
  • Tavares de Almeida I; 1] Metabolism & Genetics Group, Research Institute for Medicines and Pharmaceutical Sciences (iMed.UL), Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal [2] Department of Biochemistry and Human Biology, Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal.
  • Vicente JB; 1] Metabolism & Genetics Group, Research Institute for Medicines and Pharmaceutical Sciences (iMed.UL), Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal [2] Department of Biochemistry and Human Biology, Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal.
  • Rivera I; 1] Metabolism & Genetics Group, Research Institute for Medicines and Pharmaceutical Sciences (iMed.UL), Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal [2] Department of Biochemistry and Human Biology, Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal.
Eur J Hum Genet ; 23(4): 500-6, 2015 Apr.
Article em En | MEDLINE | ID: mdl-25052314
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Splicing de RNA / DNA Antissenso / Galactosemias / UDPglucose-Hexose-1-Fosfato Uridiltransferase Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Portugal País de publicação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Splicing de RNA / DNA Antissenso / Galactosemias / UDPglucose-Hexose-1-Fosfato Uridiltransferase Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Portugal País de publicação: Reino Unido