The First Homozygote Mutation c.499G>T (Asp167Tyr) in the RPE65 Gene Encoding Retinoid Isomerohydrolase Causing Retinal Dystrophy

RPE65, an abundant membrane-associated protein present in the retinal pigment epithelium (RPE), is a vital retinoid isomerase necessary for regenerating 11-cis-retinaldehyde from all-trans retinol in the visual cycle. In patients with inherited retinal dystrophy (IRD), precise genetic diagnosis is a...

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Detalles Bibliográficos
Autores principales: Bjeloš, Mirjana, Ćurić, Ana, Rak, Benedict, Bušić, Mladen, Kuzmanović Elabjer, Biljana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777422/
https://www.ncbi.nlm.nih.gov/pubmed/36547097
http://dx.doi.org/10.3390/cimb44120436

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777422/
https://www.ncbi.nlm.nih.gov/pubmed/36547097
http://dx.doi.org/10.3390/cimb44120436

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