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On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness.
Bryant, Laura; Lozynska, Olga; Han, Grace; Morgan, Jessica I W; Gai, Xiaowu; Maguire, Albert M; Aleman, Tomas; Bennett, Jean.
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  • Bryant L; a Center for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology , Scheie Eye Institute, University of Pennsylvania , Philadelphia , Pennsylvania , USA.
  • Lozynska O; b Department of Ophthalmology , Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine , Philadelphia , Pennsylvania , USA.
  • Han G; a Center for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology , Scheie Eye Institute, University of Pennsylvania , Philadelphia , Pennsylvania , USA.
  • Morgan JIW; b Department of Ophthalmology , Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine , Philadelphia , Pennsylvania , USA.
  • Gai X; a Center for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology , Scheie Eye Institute, University of Pennsylvania , Philadelphia , Pennsylvania , USA.
  • Maguire AM; b Department of Ophthalmology , Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine , Philadelphia , Pennsylvania , USA.
  • Aleman T; a Center for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology , Scheie Eye Institute, University of Pennsylvania , Philadelphia , Pennsylvania , USA.
  • Bennett J; b Department of Ophthalmology , Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine , Philadelphia , Pennsylvania , USA.
Ophthalmic Genet ; 39(1): 144-146, 2018.
Article en En | MEDLINE | ID: mdl-28805479
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Degeneración Retiniana / Retinitis Pigmentosa / Ceguera / Mutación Missense / Semaforinas / Degeneración Macular Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Aged / Female / Humans / Male Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Degeneración Retiniana / Retinitis Pigmentosa / Ceguera / Mutación Missense / Semaforinas / Degeneración Macular Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Aged / Female / Humans / Male Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos