Sort   by:  
 Page size 
Data Access Committee EGAC00001002010
C1013G/CXCR4 variant has been inserted into BCWM.1 cells, and gene expression profile has been performed on the mutated cells and on the parental cells. Affimetrix Human Genome U133_Plus2.0 array We used microarrays to dissect the possible changes occurring at mRNA level in mutated cells versus the ...
ORGANISM(S): Homo sapiens 
In the context of research, this dataset contains 423 IRD samples; 411 of them analyzed with Clinical Exome Sequencing solutions, and 12 with Whole Exome Sequencing.
Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in a Spanish cohort of patients. A retrospective ...
Sort   by:  
 Page size