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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: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2009
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| 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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