Articles with "impaired alternative" as a keyword



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Human iPSC-derived RPE and retinal organoids reveal impaired alternative splicing of genes involved in pre-mRNA splicing in PRPF31 autosomal dominant retinitis pigmentosa

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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,… read more here.

Keywords: retinitis pigmentosa; autosomal dominant; impaired alternative; dominant retinitis ... See more keywords