X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR

We aimed to validate the effect of non-canonical splice site variants in the RPGR gene in five patients from four families diagnosed with retinitis pigmentosa. Four variants located in intron 2 (c.154 + 3_154 + 6del), intron 3 (c.247 + 5G>A), intron 7 (c.779-5T>G), and intron 13 (c.1573-12A>...

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Detalles Bibliográficos
Autores principales: Kortüm, Friederike, Kieninger, Sinja, Mazzola, Pascale, Kohl, Susanne, Wissinger, Bernd, Prokisch, Holger, Stingl, Katarina, Weisschuh, Nicole
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7830253/
https://www.ncbi.nlm.nih.gov/pubmed/33467000
http://dx.doi.org/10.3390/ijms22020850

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7830253/
https://www.ncbi.nlm.nih.gov/pubmed/33467000
http://dx.doi.org/10.3390/ijms22020850

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