Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies

Mutations in the cilia-centrosomal protein Retinitis Pigmentosa GTPase Regulator (RPGR) are a frequent cause of retinal degeneration. The RPGR gene undergoes complex alternative splicing and encodes multiple protein isoforms. To elucidate the function of major RPGR isoforms (RPGR(1-19) and RPGR(ORF1...

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Autors principals: He, Shirley, Parapuram, Sunil K., Hurd, Toby W., Behnam, Babak, Margolis, Ben, Swaroop, Anand, Khanna, Hemant
Format: Artigo
Idioma:Inglês
Publicat: 2007
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2267686/
https://ncbi.nlm.nih.gov/pubmed/17904189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.visres.2007.08.005
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