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Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development
Dysfunction of primary cilia is associated with tissue-specific or syndromic disorders. RPGR is a ciliary protein, mutations in which can lead to retinitis pigmentosa (RP), cone-rod degeneration, respiratory infections and hearing disorders. Though RPGR is implicated in ciliary transport, the pathog...
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| Autores principales: | , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Oxford University Press
2010
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2792150/ https://ncbi.nlm.nih.gov/pubmed/19815619 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp469 |
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