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Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases

Inherited retinal diseases (IRDs) are often associated with variable clinical expressivity (VE) and incomplete penetrance (IP). Underlying mechanisms may include environmental, epigenetic, and genetic factors. Cis-acting expression quantitative trait loci (cis-eQTLs) can be implicated in the regulat...

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Detalles Bibliográficos
Autores principales: Llavona, Pablo, Pinelli, Michele, Mutarelli, Margherita, Singh Marwah, Veer, Schimpf-Linzenbold, Simone, Thaler, Sebastian, Yoeruek, Efdal, Vetter, Jan, Kohl, Susanne, Wissinger, Bernd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664133/
https://www.ncbi.nlm.nih.gov/pubmed/29053642
http://dx.doi.org/10.3390/genes8100283