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Residual Electroretinograms in Young Leber Congenital Amaurosis Patients with Mutations of AIPL1

PURPOSE. To describe in detail the clinical phenotype and electrophysiological features of three patients with Leber congenital amaurosis caused by mutations of AIPL1. METHODS. Ophthalmologic examination, color fundus photography, detailed electrophysiological assessment, and screening of AIPL1 were...

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Autors principals: Pennesi, Mark E., Stover, Niamh B., Stone, Edwin M., Chiang, Pei-Wen, Weleber, Richard G.
Format: Artigo
Idioma:Inglês
Publicat: Association for Research in Vision and Ophthalmology, Inc. 2011
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3208025/
https://ncbi.nlm.nih.gov/pubmed/21900377
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.11-8298
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