Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations

PURPOSE: Despite the extensive use of next-generation sequencing (NGS) technology to identify disease-causing genomic variations, a major gap in our understanding of Mendelian diseases is the unidentified molecular lesion in a significant portion of patients. For inherited retinal degenerations (IRD...

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Detalles Bibliográficos
Autores principales: Zou, Gang, Zhang, Tao, Cheng, Xuesen, Igelman, Austin D., Wang, Jun, Qian, Xinye, Fu, Shangyi, Wang, Keqing, Koenekoop, Robert K., Fishman, Gerald A., Yang, Paul, Li, Yumei, Pennesi, Mark E., Chen, Rui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8056464/
https://www.ncbi.nlm.nih.gov/pubmed/33907365

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8056464/
https://www.ncbi.nlm.nih.gov/pubmed/33907365

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