RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene account for almost 20% of patients with retinitis pigmentosa. Most mutations are detected in alternatively-spliced RPGR-ORF15 isoform(s), which are primarily but not exclusively expressed in the retina. We show that, in addition to t...

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Detalhes bibliográficos
Main Authors: Khanna, Hemant, Hurd, Toby W., Lillo, Concepcion, Shu, Xinhua, Parapuram, Sunil K., He, Shirley, Akimoto, Masayuki, Wright, Alan F., Margolis, Ben, Williams, David S., Swaroop, Anand
Formato: Artigo
Idioma:Inglês
Publicado em: 2005
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1249479/
https://ncbi.nlm.nih.gov/pubmed/16043481
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M505827200
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