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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-25052314
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA Splicing / DNA, Antisense / Galactosemias / UDPglucose-Hexose-1-Phosphate Uridylyltransferase Type of study: Observational_studies / Risk_factors_studies Limits: Animals / Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2015 Document type: Article Affiliation country: Portugal
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA Splicing / DNA, Antisense / Galactosemias / UDPglucose-Hexose-1-Phosphate Uridylyltransferase Type of study: Observational_studies / Risk_factors_studies Limits: Animals / Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2015 Document type: Article Affiliation country: Portugal