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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Bibliographic Details
Main Author: Meschede, Ingrid P. (author)
Other Authors: Burgoyne, Thomas (author), Tolmachova, Tanya (author), Seabra, Miguel C. (author), Futter, Clare E. (author)
Format: article
Language:eng
Published: 2020
Subjects:
Online Access:http://hdl.handle.net/10362/108123
Country:Portugal
Oai:oai:run.unl.pt:10362/108123