RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis

The function of the retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) gene is currently not known. However, mutations within the gene lead to Leber Congenital Amaurosis and autosomal recessive retinitis pigmentosa in human patients. In a previously described knockout mouse model...

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Autors principals: Won, Jungyeon, Gifford, Elaine, Smith, Richard S., Yi, Haiqing, Ferreira, Paulo A., Hicks, Wanda L., Li, Tiansen, Naggert, Jürgen K., Nishina, Patsy M.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2009
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2766293/
https://ncbi.nlm.nih.gov/pubmed/19679561
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp385
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