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Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy

BACKGROUND: Choroideremia (CHM) is an X‐linked degeneration of the retinal pigment epithelium, photoreceptors, and choroid, which causes nyctalopia and progressive constriction of visual fields leading to blindness. The CHM gene encodes Rab escort protein 1 (REP‐1). In this work, we reviewed the phe...

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Detalles Bibliográficos
Autores principales: Freund, Paul R., Sergeev, Yuri V., MacDonald, Ian M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867567/
https://www.ncbi.nlm.nih.gov/pubmed/27247961
http://dx.doi.org/10.1002/mgg3.208