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Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis

Retinal degeneration 3 (RD3) is an evolutionarily conserved 23 kDa protein expressed in rod and cone photoreceptor cells. Mutations in the gene encoding RD3 resulting in unstable non-functional C-terminal truncated proteins are responsible for early onset photoreceptor degeneration in Leber Congenit...

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Detalles Bibliográficos
Autores principales: Molday, Laurie L., Jefferies, Thomas, Molday, Robert S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4033307/
https://www.ncbi.nlm.nih.gov/pubmed/24904271
http://dx.doi.org/10.3389/fnmol.2014.00044