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Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.
Matos, Liliana; Gonçalves, Vânia; Pinto, Eugénia; Laranjeira, Francisco; Prata, Maria João; Jordan, Peter; Desviat, Lourdes R; Pérez, Belén; Alves, Sandra.
Afiliação
  • Matos L; Research and Development Unit, Department of Human Genetics, INSA, Porto, Portugal; Department of Biology, Faculty of Sciences, University of Porto, Porto, Portugal. Electronic address: liliana.matos@insa.min-saude.pt.
  • Gonçalves V; Research and Development Unit, Department of Human Genetics, INSA, Lisbon, Portugal. Electronic address: vania.goncalves@insa.min-saude.pt.
  • Pinto E; Biochemical Genetics Unit, Center for Medical Genetics Jacinto Magalhães, Porto Hospital Center, Porto, Portugal. Electronic address: eugenia.pinto@chp.min-saude.pt.
  • Laranjeira F; Biochemical Genetics Unit, Center for Medical Genetics Jacinto Magalhães, Porto Hospital Center, Porto, Portugal. Electronic address: francisco.laranjeira@chp.min-saude.pt.
  • Prata MJ; Department of Biology, Faculty of Sciences, University of Porto, Porto, Portugal; i3S - Instituto de Investigação e Inovação em Saúde/IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal. Electronic address: mprata@ipatimup.pt.
  • Jordan P; Research and Development Unit, Department of Human Genetics, INSA, Lisbon, Portugal. Electronic address: peter.jordan@insa.min-saude.pt.
  • Desviat LR; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; CIBER de Enfermedades Raras (CIBERER), Madrid, Spain; IDIPaz, Madrid, Spain. Electronic address: lruiz@cbm.csic.es.
  • Pérez B; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; CIBER de Enfermedades Raras (CIBERER), Madrid, Spain; IDIPaz, Madrid, Spain. Electronic address: bperez@cbm.csic.es.
  • Alves S; Research and Development Unit, Department of Human Genetics, INSA, Porto, Portugal. Electronic address: sandra.alves@insa.min-saude.pt.
Biochim Biophys Acta ; 1852(12): 2712-21, 2015 Dec.
Article em En | MEDLINE | ID: mdl-26407519

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Biochim Biophys Acta Ano de publicação: 2015 Tipo de documento: Article País de publicação: Holanda

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Biochim Biophys Acta Ano de publicação: 2015 Tipo de documento: Article País de publicação: Holanda