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Translational Read-Through Therapy of RPGR Nonsense Mutations

X-chromosomal retinitis pigmentosa (RP) frequently is caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. We evaluated the potential of PTC124 (Ataluren, Translama(TM)) treatment to promote ribosomal read-through of premature termination codons (PTC) in RPGR. Expression con...

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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Vössing, Christine, Owczarek-Lipska, Marta, Nagel-Wolfrum, Kerstin, Reiff, Charlotte, Jüschke, Christoph, Neidhardt, John
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7697989/
https://ncbi.nlm.nih.gov/pubmed/33182541
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21228418
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