Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration

PURPOSE: With the advent of gene therapies for inherited retinal degenerations (IRDs), genetic diagnostics will have an increasing role in clinical decision-making. Yet the genetic cause of disease cannot be identified using exon-based sequencing for a significant portion of patients. We hypothesize...

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Detalles Bibliográficos
Autores principales: Jamshidi, Farzad, Place, Emily M., Mehrotra, Sudeep, Navarro-Gomez, Daniel, Maher, Mathew, Branham, Kari E., Valkanas, Elise, Cherry, Timothy J., Lek, Monkol, MacArthur, Daniel, Pierce, Eric A., Bujakowska, Kinga M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399075/
https://www.ncbi.nlm.nih.gov/pubmed/30072743
http://dx.doi.org/10.1038/s41436-018-0104-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399075/
https://www.ncbi.nlm.nih.gov/pubmed/30072743
http://dx.doi.org/10.1038/s41436-018-0104-7

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