Choroideremia: Update On Clinical Features And Emerging Treatments

Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium and retina. This disease is caused by mutations in the X-linked CHM gene encoding a Ras-related GTPase Rab escort protein (REP)-1, which is extremely import...

Descripción completa

Detalles Bibliográficos
Autores principales: Brambati, Maria, Borrelli, Enrico, Sacconi, Riccardo, Bandello, Francesco, Querques, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2019
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874149/
https://www.ncbi.nlm.nih.gov/pubmed/31819346
http://dx.doi.org/10.2147/OPTH.S195564

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874149/
https://www.ncbi.nlm.nih.gov/pubmed/31819346
http://dx.doi.org/10.2147/OPTH.S195564

Ejemplares similares