Determinants of Disease Penetrance in PRPF31-Associated Retinopathy

Retinitis pigmentosa 11 (RP11) is caused by dominant mutations in PRPF31, however a significant proportion of mutation carriers do not develop retinopathy. Here, we investigated the relationship between CNOT3 polymorphism, MSR1 repeat copy number and disease penetrance in RP11 patients and non-penet...

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Detalles Bibliográficos
Autores principales: McLenachan, Samuel, Zhang, Dan, Grainok, Janya, Zhang, Xiao, Huang, Zhiqin, Chen, Shang-Chih, Zaw, Khine, Lima, Alanis, Jennings, Luke, Roshandel, Danial, Moon, Sang Yoon, Heath Jeffery, Rachael C., Attia, Mary S., Thompson, Jennifer A., Lamey, Tina M., McLaren, Terri L., De Roach, John, Fletcher, Sue, 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/PMC8535263/
https://www.ncbi.nlm.nih.gov/pubmed/34680937
http://dx.doi.org/10.3390/genes12101542

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