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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados