Structural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel

Numerous missense mutations in cyclic nucleotide-gated (CNG) channels cause achromatopsia and retinitis pigmentosa, but the underlying pathogenic mechanisms are often unclear. We investigated the structural basis and molecular/cellular effects of R410W, an achromatopsia-associated, presumed loss-of-...

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Detalles Bibliográficos
Autores principales: Zheng, Xiangdong, Li, Huan, Hu, Zhengshan, Su, Deyuan, Yang, Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8888761/
https://www.ncbi.nlm.nih.gov/pubmed/35233102
http://dx.doi.org/10.1038/s42003-022-03120-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8888761/
https://www.ncbi.nlm.nih.gov/pubmed/35233102
http://dx.doi.org/10.1038/s42003-022-03120-6

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