Characterization of Retinal Structure in ATF6-Associated Achromatopsia

PURPOSE: Mutations in six genes have been associated with achromatopsia (ACHM): CNGA3, CNGB3, PDE6H, PDE6C, GNAT2, and ATF6. ATF6 is the most recent gene to be identified, though thorough phenotyping of this genetic subtype is lacking. Here, we sought to test the hypothesis that ATF6-associated ACHM...

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Detalles Bibliográficos
Autores principales: Mastey, Rebecca R., Georgiou, Michalis, Langlo, Christopher S., Kalitzeos, Angelos, Patterson, Emily J., Kane, Thomas, Singh, Navjit, Vincent, Ajoy, Moore, Anthony T., Tsang, Stephen H., Lin, Jonathan H., Young, Marielle P., Hartnett, M. Elizabeth, Héon, Elise, Kohl, Susanne, Michaelides, Michel, Carroll, Joseph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2019
Materias:
Retina
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6594318/
https://www.ncbi.nlm.nih.gov/pubmed/31237654
http://dx.doi.org/10.1167/iovs.19-27047

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