Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa

X-linked retinitis pigmentosa (XLRP) caused by mutations in the RPGR gene is one of the most severe forms of RP due to its early onset and intractable progression. Most cases have been associated with genetic variants within the purine-rich exon ORF15 region of this gene. RPGR retinal gene therapy i...

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Detalles Bibliográficos
Autores principales: Koller, Samuel, Beltraminelli, Tim, Maggi, Jordi, Wlodarczyk, Agnès, Feil, Silke, Baehr, Luzy, Gerth-Kahlert, Christina, Menghini, Moreno, Berger, Wolfgang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137330/
https://www.ncbi.nlm.nih.gov/pubmed/37107692
http://dx.doi.org/10.3390/genes14040934

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137330/
https://www.ncbi.nlm.nih.gov/pubmed/37107692
http://dx.doi.org/10.3390/genes14040934

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