Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions
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DOI: 10.1080/13816810.2017.1393825
Abstract: ABSTRACT Purpose: To expand the genotype/phenotype correlations in patients with autosomal dominant retinitis pigmentosa (adRP) harboring PRPF8 variants. Materials and Methods: Two patients, a father and his daughter, harboring a novel p.PRPF8-Glu2331* variant, underwent ophthalmic… read more here.
Keywords: prpf8; clinical phenotypes; autosomal dominant; dominant retinitis ... See more keywords