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...

詳細記述

保存先:
書誌詳細
出版年:Invest Ophthalmol Vis Sci
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: The Association for Research in Vision and Ophthalmology 2019
主題:
Retina
オンライン･アクセス: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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