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Published in 2018 at "Journal of Clinical Investigation"
DOI: 10.2139/ssrn.3155753
Abstract: Mutations in pre-mRNA processing factors (PRPFs) cause 40% of autosomal dominant retinitis pigmentosa (RP), but it is unclear why mutations in ubiquitously expressed PRPFs cause retinal disease. To understand the molecular basis of this phenotype,…
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Keywords:
retinitis pigmentosa;
autosomal dominant;
impaired alternative;
dominant retinitis ... See more keywords