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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Detalhes bibliográficos
Publicado no:Invest Ophthalmol Vis Sci
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2019
Assuntos:
Retina
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6594318/
https://ncbi.nlm.nih.gov/pubmed/31237654
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.19-27047
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