Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15

Mutations in RPGR(ORF15) are associated with rod-cone or cone/cone-rod dystrophy, the latter associated with mutations at the distal end. We describe the phenotype associated with a novel variant in the terminal codon of the RPGR(ORF15) c.3457T>A (Ter1153Lysext*38), which results in a C-terminal...

Descripción completa

Detalles Bibliográficos
Autores principales: Hadalin, Vlasta, Šuštar, Maja, Volk, Marija, Maver, Aleš, Sajovic, Jana, Jarc-Vidmar, Martina, Peterlin, Borut, Hawlina, Marko, Fakin, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8066792/
https://www.ncbi.nlm.nih.gov/pubmed/33805381
http://dx.doi.org/10.3390/genes12040499

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8066792/
https://www.ncbi.nlm.nih.gov/pubmed/33805381
http://dx.doi.org/10.3390/genes12040499

Ejemplares similares