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Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype

Mutations in the retinitis pigmentosa 1 (RP1) gene are a common cause of autosomal dominant retinitis pigmentosa (adRP), and have also been found to cause autosomal recessive RP (arRP) in a few families. The 33 dominant mutations and 6 recessive RP1 mutations identified to date are all nonsense or f...

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Autors principals: Liu, Qin, Collin, Rob W. J., Cremers, Frans P. M., den Hollander, Anneke I., van den Born, L. Ingeborgh, Pierce, Eric A.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3424119/
https://ncbi.nlm.nih.gov/pubmed/22927954
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0043251
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