Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data

BACKGROUND: Inherited retinal diseases (IRD) are genetically heterogeneous disorders that cause the dysfunction or loss of photoreceptor cells and ultimately lead to blindness. To date, next-generation sequencing procedures fail to detect pathogenic sequence variants in coding regions of known IRD d...

Descripción completa

Detalles Bibliográficos
Autores principales: Ruiz-Ceja, Karla Alejandra, Capasso, Dalila, Pinelli, Michele, Del Prete, Eugenio, Carrella, Diego, di Bernardo, Diego, Banfi, Sandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10111803/
https://www.ncbi.nlm.nih.gov/pubmed/37072692
http://dx.doi.org/10.1186/s12864-023-09300-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10111803/
https://www.ncbi.nlm.nih.gov/pubmed/37072692
http://dx.doi.org/10.1186/s12864-023-09300-w

Ejemplares similares