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Chronically shortened rod outer segments accompany photoreceptor cell death in Choroideremia

X-linked choroideremia (CHM) is a disease characterized by gradual retinal degeneration caused by loss of the Rab Escort Protein, REP1. Despite partial compensation by REP2 the disease is characterized by prenylation defects in multiple members of the Rab protein family that are master regulators of...

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Detalles Bibliográficos
Autores principales: Meschede, Ingrid P., Burgoyne, Thomas, Tolmachova, Tanya, Seabra, Miguel C., Futter, Clare E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7671558/
https://www.ncbi.nlm.nih.gov/pubmed/33201897
http://dx.doi.org/10.1371/journal.pone.0242284