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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...
Autores principales: | Mitsios, Andreas, Dubis, Adam M., Moosajee, Mariya |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311551/ https://www.ncbi.nlm.nih.gov/pubmed/30627697 http://dx.doi.org/10.1177/2515841418817490 |
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