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Photoreceptor Structure in GNAT2-Associated Achromatopsia

PURPOSE: The purpose of this study was to report GNAT2-associated achromatopsia (GNAT2-ACHM) natural history, characterize photoreceptor mosaic, and determine a therapeutic window for potential intervention. METHODS: Patients with GNAT2-ACHM were recruited from a single tertiary referral eye center...

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Detalles Bibliográficos
Autores principales: Georgiou, Michalis, Singh, Navjit, Kane, Thomas, Robson, Anthony G., Kalitzeos, Angelos, Hirji, Nashila, Webster, Andrew R., Dubra, Alfredo, Carroll, Joseph, Michaelides, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7401776/
https://www.ncbi.nlm.nih.gov/pubmed/32203983
http://dx.doi.org/10.1167/iovs.61.3.40