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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2020
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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 |