Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments
Choroideremia is an X-linked inherited chorioretinal dystrophy leading to blindness by late adulthood. Choroideremia is caused by mutations in the CHM gene which encodes Rab escort protein 1 (REP1), an ubiquitously expressed protein involved in intracellular trafficking and prenylation activity. The...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2018-12-01
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| Series: | Therapeutic Advances in Ophthalmology |
| Online Access: | https://doi.org/10.1177/2515841418817490 |