Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo

Choroideremia (CHM) is an X-linked retinal degeneration of photoreceptors, the retinal pigment epithelium (RPE) and choroid caused by loss of function mutations in the CHM/REP1 gene that encodes Rab escort protein 1. As a slowly progressing monogenic retinal degeneration with a clearly identifiable...

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Bibliographische Detailangaben
Hauptverfasser: Tolmachova, Tanya, Tolmachov, Oleg E., Barnard, Alun R., de Silva, Samantha R., Lipinski, Daniel M., Walker, Nathan J., MacLaren, Robert E., Seabra, Miguel C.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer Berlin Heidelberg 2013
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3695676/
https://ncbi.nlm.nih.gov/pubmed/23756766
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00109-013-1006-4
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