Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment

Cyclic nucleotide-gated (CNG) ion channels are key mediators underlying signal transduction in retinal and olfactory receptors. Genetic defects in CNGA3 and CNGB3, encoding two structurally related subunits of cone CNG channels, lead to achromatopsia (ACHM). ACHM is a congenital, autosomal recessive...

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Detalles Bibliográficos
Autores principales: Tanaka, Naoto, Dutrow, Emily V., Miyadera, Keiko, Delemotte, Lucie, MacDermaid, Christopher M., Reinstein, Shelby L., Crumley, William R., Dixon, Christopher J., Casal, Margret L., Klein, Michael L., Aguirre, Gustavo D., Tanaka, Jacqueline C., Guziewicz, Karina E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4583268/
https://www.ncbi.nlm.nih.gov/pubmed/26407004
http://dx.doi.org/10.1371/journal.pone.0138943

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