Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12060915
Abstract: PRPF31-associated retinopathy (RP11) is a common form of autosomal dominant retinitis pigmentosa (adRP) that exhibits wide variation in phenotype ranging from non-penetrance to early-onset RP. Herein, we report inter-familial and intra-familial variation in the natural… read more here.
Keywords: prpf31; type prpf31; patterns observed; prpf31 allele ... See more keywords