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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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Detalhes bibliográficos
Main Authors: Pennesi, Mark E., Stover, Niamh B., Stone, Edwin M., Chiang, Pei-Wen, Weleber, Richard G.
Formato: Artigo
Idioma:Inglês
Publicado em: Association for Research in Vision and Ophthalmology, Inc. 2011
Assuntos:
Acesso em linha: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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