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Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia.

JOURNAL OF CLINICAL INVESTIGATION, no. 2 (2006): 386-394

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pubmed.ncbi.nlm.nih.gov academic.microsoft.com

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knockout mouse

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Choroideremia (CHM) is an X-linked degeneration of the retinal pigment epithelium (RPE), photoreceptors, and choroid, caused by loss of function of the CHM/REP1 gene. REP1 is involved in lipid modification (prenylation) of Rab GTPases, key regulators of intracellular vesicular transport and organelle dynamics. To study the pathogenesis of...更多

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