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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...
Autores principales: | Brambati, Maria, Borrelli, Enrico, Sacconi, Riccardo, Bandello, Francesco, Querques, Giuseppe |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2019
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Materias: | |
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 |
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