Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy

Mutations in the EYS gene are one of the major causes of autosomal recessive retinitis pigmentosa. EYS-retinopathy presents a severe clinical phenotype, and patients currently have no therapeutic options. The progress in personalised medicine and gene and cell therapies hold promise for treating thi...

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Detaylı Bibliyografya
Yayımlandı:Orphanet J Rare Dis
Asıl Yazarlar: Garcia-Delgado, Ana B., Valdes-Sanchez, Lourdes, Morillo-Sanchez, Maria Jose, Ponte-Zuñiga, Beatriz, Diaz-Corrales, Francisco J., de la Cerda, Berta
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2021
Konular:
Review
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8127272/
https://ncbi.nlm.nih.gov/pubmed/34001227
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01843-z
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