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Short-Wavelength Sensitive Cone (S-cone) Testing as an Outcome Measure for NR2E3 Clinical Treatment Trials

Recessively-inherited NR2E3 gene mutations cause an unusual retinopathy with abnormally-increased short-wavelength sensitive cone (S-cone) function, in addition to reduced rod and long/middle-wavelength sensitive cone (L/M-cone) function. Progress toward clinical trials to treat patients with this o...

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Detalles Bibliográficos
Autores principales: Roman, Alejandro J., Powers, Christian A., Semenov, Evelyn P., Sheplock, Rebecca, Aksianiuk, Valeryia, Russell, Robert C., Sumaroka, Alexander, Garafalo, Alexandra V., Cideciyan, Artur V., Jacobson, Samuel G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6566804/
https://www.ncbi.nlm.nih.gov/pubmed/31117170
http://dx.doi.org/10.3390/ijms20102497