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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8232116/
https://www.ncbi.nlm.nih.gov/pubmed/34198599
http://dx.doi.org/10.3390/genes12060915

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8232116/
https://www.ncbi.nlm.nih.gov/pubmed/34198599
http://dx.doi.org/10.3390/genes12060915

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