Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L/M Opsin Interchange Mutations

PURPOSE: Human long (L) and middle (M) wavelength cone opsin genes are highly variable due to intermixing. Two L/M cone opsin interchange mutants, designated LIAVA and LVAVA, are associated with clinical diagnoses, including red-green color vision deficiency, blue cone monochromacy, cone degeneratio...

Descripción completa

Detalles Bibliográficos
Autores principales: Greenwald, Scott H., Kuchenbecker, James A., Rowlan, Jessica S., Neitz, Jay, Neitz, Maureen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5433808/
https://www.ncbi.nlm.nih.gov/pubmed/28516000
http://dx.doi.org/10.1167/tvst.6.3.2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5433808/
https://www.ncbi.nlm.nih.gov/pubmed/28516000
http://dx.doi.org/10.1167/tvst.6.3.2

Ejemplares similares