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...

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Detalles Bibliográficos
Autores principales: Mitsios, Andreas, Dubis, Adam M., Moosajee, Mariya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2018
Materias:
Review
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

Internet

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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