Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa

PRPF31-associated retinitis pigmentosa presents a fascinating enigma: some mutation carriers are blind, while others are asymptomatic. We identify the major molecular cause of this incomplete penetrance through three cardinal features: (1) there is population variation in the number (3 or 4) of a mi...

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Detalles Bibliográficos
Autores principales: Rose, Anna M., Shah, Amna Z., Venturini, Giulia, Krishna, Abhay, Chakravarti, Aravinda, Rivolta, Carlo, Bhattacharya, Shomi S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4725990/
https://www.ncbi.nlm.nih.gov/pubmed/26781568
http://dx.doi.org/10.1038/srep19450

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4725990/
https://www.ncbi.nlm.nih.gov/pubmed/26781568
http://dx.doi.org/10.1038/srep19450

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