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

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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Main Authors: 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.
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Language:English
Published: 2018
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Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC6399075/
https://pubmed.ncbi.nlm.nih.gov/30072743
http://dx.doi.org/10.1038/s41436-018-0104-7
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https://pmc.ncbi.nlm.nih.gov/articles/PMC6399075/
https://pubmed.ncbi.nlm.nih.gov/30072743
http://dx.doi.org/10.1038/s41436-018-0104-7

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