Disease mechanisms of X‐linked cone dystrophy caused by missense mutations in the red and green cone opsins

Cone photoreceptors are responsible for the visual acuity and color vision of the human eye. Red/green cone opsin missense mutations N94K, W177R, P307L, R330Q, and G338E have been identified in subjects with congenital blue cone monochromacy or color‐vision deficiency. Studies on disease mechanisms...

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Detalles Bibliográficos
Autores principales: Zhu, Ping, Dyka, Frank, Ma, Xiaojie, Yin, Ling, Yu, Heather, Baehr, Wolfgang, Hauswirth, William W., Deng, Wen‐Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8462070/
https://www.ncbi.nlm.nih.gov/pubmed/34547123
http://dx.doi.org/10.1096/fj.202101066R

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8462070/
https://www.ncbi.nlm.nih.gov/pubmed/34547123
http://dx.doi.org/10.1096/fj.202101066R

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