Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11

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 history of RP11 using multimod...

詳細記述

保存先:
書誌詳細
出版年:Genes (Basel)
主要な著者: Roshandel, Danial, Thompson, Jennifer A., Heath Jeffery, Rachael C., Zhang, Dan, Lamey, Tina M., McLaren, Terri L., De Roach, John N., McLenachan, Samuel, Mackey, David A., Chen, Fred K.
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2021
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC8232116/
https://ncbi.nlm.nih.gov/pubmed/34198599
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12060915
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