Genetic deficiency of ribosomal rescue factor HBS1L causes retinal dystrophy associated with Pelota and EDF1 depletion

Inherited retinal diseases (IRDs) encompass a genetically diverse group of conditions in which mutations in genes critical to retinal function lead to progressive loss of photoreceptor cells and subsequent visual impairment. A handful of ribosome-associated genes have been implicated in retinal diso...

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Detalles Bibliográficos
Autores principales: Luo, Shiyu, Alwattar, Bilal, Li, Qifei, Bora, Kiran, Blomfield, Alexandra K., Lin, Jasmine, Fulton, Anne, Chen, Jing, Agrawal, Pankaj B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10614867/
https://www.ncbi.nlm.nih.gov/pubmed/37905068
http://dx.doi.org/10.1101/2023.10.18.562924

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10614867/
https://www.ncbi.nlm.nih.gov/pubmed/37905068
http://dx.doi.org/10.1101/2023.10.18.562924

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