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Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.
Jacobson, Samuel G; Cideciyan, Artur V; Peshenko, Igor V; Sumaroka, Alexander; Olshevskaya, Elena V; Cao, Lihui; Schwartz, Sharon B; Roman, Alejandro J; Olivares, Melani B; Sadigh, Sam; Yau, King-Wai; Heon, Elise; Stone, Edwin M; Dizhoor, Alexander M.
  • Jacobson SG; Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA. jacobsos@mail.med.upenn.edu
Hum Mol Genet ; 22(1): 168-83, 2013 Jan 01.
Article en En | MEDLINE | ID: mdl-23035049
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Células Fotorreceptoras Retinianas Conos / Receptores de Superficie Celular / Células Fotorreceptoras de Vertebrados / Mutación Missense / Amaurosis Congénita de Leber / Guanilato Ciclasa Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2013 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Células Fotorreceptoras Retinianas Conos / Receptores de Superficie Celular / Células Fotorreceptoras de Vertebrados / Mutación Missense / Amaurosis Congénita de Leber / Guanilato Ciclasa Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2013 Tipo del documento: Article