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Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.
Kaltak, Melita; Blanco-Garavito, Rocio; Molday, Laurie L; Dhaenens, Claire-Marie; Souied, Eric E; Platenburg, Gerard; Swildens, Jim; Molday, Robert S; Cremers, Frans P M.
Afiliação
  • Kaltak M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Blanco-Garavito R; ProQR Therapeutics, Leiden, The Netherlands.
  • Molday LL; Department of Ophthalmology, Intercommunal Hospital Center and Henri Mondor Hospital, Paris-Est Créteil University, Creteil, France.
  • Dhaenens CM; Department of Biochemistry and Molecular Biology, Department of Ophthalmology and Visual Sciences, Centre for Macular Research, University of British Columbia, Vancouver, BC, Canada.
  • Souied EE; University of Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, Lille, France.
  • Platenburg G; Department of Ophthalmology, Intercommunal Hospital Center and Henri Mondor Hospital, Paris-Est Créteil University, Creteil, France.
  • Swildens J; ProQR Therapeutics, Leiden, The Netherlands.
  • Molday RS; ProQR Therapeutics, Leiden, The Netherlands.
  • Cremers FPM; Department of Biochemistry and Molecular Biology, Department of Ophthalmology and Visual Sciences, Centre for Macular Research, University of British Columbia, Vancouver, BC, Canada.
J Transl Med ; 21(1): 546, 2023 08 16.
Article em En | MEDLINE | ID: mdl-37587475
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinaldeído / Adenosina Trifosfatases Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: J Transl Med Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinaldeído / Adenosina Trifosfatases Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: J Transl Med Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Holanda