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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...

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Detalhes bibliográficos
Publicado no:Clin Ophthalmol
Main Authors: Brambati, Maria, Borrelli, Enrico, Sacconi, Riccardo, Bandello, Francesco, Querques, Giuseppe
Formato: Artigo
Idioma:Inglês
Publicado em: Dove 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6874149/
https://ncbi.nlm.nih.gov/pubmed/31819346
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/OPTH.S195564
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