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The functional effect of pathogenic mutations in Rab escort protein 1

Choroideremia (CHM) is a chorioretinal degeneration with an X-linked pattern of inheritance. Affected males experience progressive atrophy of the choroid, retinal pigment epithelium and retina leading to eventual blindness. The CHM gene encodes Rab escort protein 1 (REP-1). REP-1 is involved in traf...

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Autors principals: Sergeev, YV, Smaoui, N, Sui, R, Stiles, D, Gordiyenko, N, Strunnikova, N, MacDonald, IM
Format: Artigo
Idioma:Inglês
Publicat: 2009
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2680797/
https://ncbi.nlm.nih.gov/pubmed/19427510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mrfmmm.2009.02.01
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