Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction

Certain combinations of common variants in exon 3 of OPN1LW and OPN1MW, the genes encoding the apo-protein of the long- and middle-wavelength sensitive cone photoreceptor visual pigments in humans, induce splicing defects and have been associated with dyschromatopsia and cone dysfunction syndromes....

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Detalles Bibliográficos
Autores principales: Stingl, Katarina, Baumann, Britta, De Angeli, Pietro, Vincent, Ajoy, Héon, Elise, Cordonnier, Monique, De Baere, Elfriede, Raskin, Salmo, Sato, Mario Teruo, Shiokawa, Naoye, Kohl, Susanne, Wissinger, Bernd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9224739/
https://www.ncbi.nlm.nih.gov/pubmed/35743313
http://dx.doi.org/10.3390/ijms23126868

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