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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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Oxford University Press
2009
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| Θέματα: | |
| Διαθέσιμο Online: | 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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