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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Detalhes bibliográficos
Autor principal: Meschede, Ingrid P. (author)
Outros Autores: Burgoyne, Thomas (author), Tolmachova, Tanya (author), Seabra, Miguel C. (author), Futter, Clare E. (author)
Formato: article
Idioma:eng
Publicado em: 2020
Assuntos:
Texto completo:http://hdl.handle.net/10362/108123
País:Portugal
Oai:oai:run.unl.pt:10362/108123