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Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.
Aleman, Tomas S; O'Neil, Erin C; O'Connor, Keli; Jiang, Yu You; Aleman, Isabella A; Bennett, Jean; Morgan, Jessica I W; Toussaint, Brian W.
Afiliação
  • Aleman TS; Scheie Eye Institute at the Perelman Center for Advanced Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • O'Neil EC; Center for Advanced Retinal and Ocular Therapeutics, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • O'Connor K; Division of Ophthalmology of the Children's Hospital of Philadelphia, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Jiang YY; Scheie Eye Institute at the Perelman Center for Advanced Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Aleman IA; Center for Advanced Retinal and Ocular Therapeutics, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Bennett J; Division of Ophthalmology of the Children's Hospital of Philadelphia, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Morgan JIW; Scheie Eye Institute at the Perelman Center for Advanced Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Toussaint BW; Center for Advanced Retinal and Ocular Therapeutics, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Ophthalmic Genet ; 42(3): 252-265, 2021 06.
Article em En | MEDLINE | ID: mdl-33729075
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Bardet-Biedl / Proteínas do Citoesqueleto / Proteínas Adaptadoras de Transdução de Sinal / Distrofias de Cones e Bastonetes Tipo de estudo: Prognostic_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Bardet-Biedl / Proteínas do Citoesqueleto / Proteínas Adaptadoras de Transdução de Sinal / Distrofias de Cones e Bastonetes Tipo de estudo: Prognostic_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article