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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Molday, Laurie L., Jefferies, Thomas, Molday, Robert S.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2014
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4033307/
https://ncbi.nlm.nih.gov/pubmed/24904271
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnmol.2014.00044
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