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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: Ghosh, Amiya K., Murga-Zamalloa, Carlos A., Chan, Lansze, Hitchcock, Peter F., Swaroop, Anand, Khanna, Hemant
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2010
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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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