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...

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Detalles Bibliográficos
Autores principales: Bjeloš, Mirjana, Bušić, Mladen, Ćurić, Ana, Šarić, Borna, Bosnar, Damir, Marković, Leon, Kuzmanović Elabjer, Biljana, Rak, Benedict
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
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

Internet

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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