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Loss-of-Function Mutations in Rab Escort Protein 1 (REP-1) Affect Intracellular Transport in Fibroblasts and Monocytes of Choroideremia Patients

BACKGROUND: Choroideremia (CHM) is a progressive X-linked retinopathy caused by mutations in the CHM gene, which encodes Rab escort protein-1 (REP-1), an escort protein involved in the prenylation of Rabs. Under-prenylation of certain Rabs, as a result of loss of function mutations in REP-1, could a...

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Detalhes bibliográficos
Main Authors: Strunnikova, Natalia V., Barb, Jennifer, Sergeev, Yuri V., Thiagarajasubramanian, Ashwin, Silvin, Christopher, Munson, Peter J., MacDonald, Ian M.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2793004/
https://ncbi.nlm.nih.gov/pubmed/20027300
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0008402
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