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RPE65 c.353G>A, p.(Arg118Lys): A Novel Point Mutation Associated with Retinitis Pigmentosa and Macular Atrophy
Precise genetic diagnosis in RPE65-mediated retinitis pigmentosa (RP) is necessary to establish eligibility for genetic treatment with voretigene neparvovec: a recombinant adeno-associated viral vector providing a functional RPE65 gene. This case report aims to report a novel RP-related point mutati...
Autores principales: | Bjeloš, Mirjana, Bušić, Mladen, Ćurić, Ana, Šarić, Borna, Bosnar, Damir, Marković, Leon, Kuzmanović Elabjer, Biljana, Rak, Benedict |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9501323/ https://www.ncbi.nlm.nih.gov/pubmed/36142423 http://dx.doi.org/10.3390/ijms231810513 |
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