Molecular basis of inherited retinal degenerations
Mutations of the REP-l gene are responsible for the X-linked retinal degeneration choroideremia (CHM). Rab Escort Protein-I (REP-I) mediates the post-translational prenyl modification of Rab GTPases. In CHM patients, the related REP-2 partly compensates for the loss-offunction of REP-I, but a subset...
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Imperial College London
2007
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.485556 |