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Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.
Downs, Louise M; Scott, Erin M; Cideciyan, Artur V; Iwabe, Simone; Dufour, Valerie; Gardiner, Kristin L; Genini, Sem; Marinho, Luis Felipe; Sumaroka, Alexander; Kosyk, Mychajlo S; Swider, Malgorzata; Aguirre, Geoffrey K; Jacobson, Samuel G; Beltran, William A; Aguirre, Gustavo D.
Afiliación
  • Downs LM; Section of Ophthalmology, Department of Clinical Studies, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Scott EM; Section of Ophthalmology, Department of Clinical Studies, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Cideciyan AV; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Iwabe S; Section of Ophthalmology, Department of Clinical Studies, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Dufour V; Section of Ophthalmology, Department of Clinical Studies, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Gardiner KL; Section of Ophthalmology, Department of Clinical Studies, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Genini S; Section of Ophthalmology, Department of Clinical Studies, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Marinho LF; Section of Ophthalmology, Department of Clinical Studies, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Sumaroka A; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Kosyk MS; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Swider M; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Aguirre GK; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Jacobson SG; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Beltran WA; Section of Ophthalmology, Department of Clinical Studies, University of Pennsylvania, Philadelphia, PA 19104, USA, wbeltran@vet.upenn.edu gda@vet.upenn.edu.
  • Aguirre GD; Section of Ophthalmology, Department of Clinical Studies, University of Pennsylvania, Philadelphia, PA 19104, USA, wbeltran@vet.upenn.edu gda@vet.upenn.edu.
Hum Mol Genet ; 25(19): 4211-4226, 2016 10 01.
Article en En | MEDLINE | ID: mdl-27506978
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Texto completo: 1 Colección: 01-internacional Asunto principal: Células Fotorreceptoras / Retina / Proteínas de Unión a Calmodulina / Cilios / Amaurosis Congénita de Leber Límite: Animals / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos
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Texto completo: 1 Colección: 01-internacional Asunto principal: Células Fotorreceptoras / Retina / Proteínas de Unión a Calmodulina / Cilios / Amaurosis Congénita de Leber Límite: Animals / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos