ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage

PURPOSE: To determine the disease pathogenesis associated with the frequent ABCA4 variant c.5714+5G>A (p.[=,Glu1863Leufs*33]). METHODS: Patient-derived photoreceptor precursor cells were generated to analyze the effect of c.5714+5G>A on splicing and perform a quantitative analysis of c.5714+5G...

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Detalles Bibliográficos
Autores principales: Sajovic, Jana, Meglič, Andrej, Corradi, Zelia, Khan, Mubeen, Maver, Aleš, Vidmar, Martina Jarc, Hawlina, Marko, Cremers, Frans P. M., Fakin, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2023
Materias:
Retina
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516765/
https://www.ncbi.nlm.nih.gov/pubmed/37728905
http://dx.doi.org/10.1167/iovs.64.12.33

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516765/
https://www.ncbi.nlm.nih.gov/pubmed/37728905
http://dx.doi.org/10.1167/iovs.64.12.33

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