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Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy

OBJECTIVES: Hereditary retinal dystrophies are a rare group of diseases which are heterogeneous in genotype and phenotype and result in total blindness. One of the genetic defects that cause hereditary retinal dystrophy is mutation of the RPE65 gene. Genetic therapy studies in hereditary retinal dys...

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Detalles Bibliográficos
Autores principales: Sinim Kahraman, Neslihan, Öner, Ayşe, Özkul, Yusuf, Dündar, Munis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9421938/
https://www.ncbi.nlm.nih.gov/pubmed/36017377
http://dx.doi.org/10.4274/tjo.galenos.2021.74944