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Article

Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments

1 Jan 2018

Abstract excerpt

gene which encodes Rab escort protein 1 (REP1), an ubiquitously expressed protein involved in intracellular trafficking and prenylation activity. The exact site of pathogenesis remains unclear but results in degeneration of the photoreceptors, retinal pigment epithelium and choroid. Animal and stem cell models have been used to study the molecular defects in choroideremia and test effectiveness of treatment...

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Identifiers

PMID: 30627697
DOI: 10.1177/2515841418817490

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Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatmentsPMID 30627697Read ↗

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