Article
Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.
Investigative ophthalmology & visual science - 1 Sept 2006
Jacobson Samuel G, Cideciyan Artur V, Sumaroka Alexander, Aleman Tomas S, Schwartz Sharon B, Windsor Elizabeth A M, Roman Alejandro J, Stone Edwin M, MacDonald Ian M
Abstract excerpt
PURPOSE: To characterize in detail the disease expression in choroideremia (CHM), a blinding X-linked disease of the retina caused by loss-of-function mutations in Rab Escort Protein 1 (REP-1). CHM is readily diagnosed in the clinic and by molecular testing but has lacked an animal model to test hypotheses and therapeutics. The recent report of a mouse model for CHM prompts the need for reassessment of the human...
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