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CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs.
Murgiano, Leonardo; Becker, Doreen; Spector, Courtney; Carlin, Kendall; Santana, Evelyn; Niggel, Jessica K; Jagannathan, Vidhya; Leeb, Tosso; Pearce-Kelling, Sue; Aguirre, Gustavo D; Miyadera, Keiko.
Afiliação
  • Murgiano L; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Becker D; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Spector C; Institute of Genome Biology, Leibniz Institute for Farm Animal Biology, Dummerstorf, Germany.
  • Carlin K; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Santana E; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Niggel JK; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Jagannathan V; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Leeb T; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
  • Pearce-Kelling S; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
  • Aguirre GD; Optigen, LLC, Ithaca, NY, USA.
  • Miyadera K; Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Sci Rep ; 10(1): 21162, 2020 12 03.
Article em En | MEDLINE | ID: mdl-33273526
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degeneração Retiniana / Mutação da Fase de Leitura / Proteínas do Olho Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals País/Região como assunto: Europa Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degeneração Retiniana / Mutação da Fase de Leitura / Proteínas do Olho Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals País/Região como assunto: Europa Idioma: En Ano de publicação: 2020 Tipo de documento: Article