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Analysis of rod-cone dystrophy genes reveals unique mutational patterns

BACKGROUND: Rod-cone dystrophy (RCD) is the most common inherited retinal disease that is characterised by the progressive degeneration of retinal photoreceptors. RCD genes classification is based exclusively on gene mutations’ prevalence and does not consider the implication of the same gene in dif...

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Detalles Bibliográficos
Autores principales: Jaffal, Lama, Ibrahim, Mariam, El Shamieh, Said
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9812813/
https://www.ncbi.nlm.nih.gov/pubmed/36618607
http://dx.doi.org/10.1136/bmjos-2022-100291