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Leber Congenital Amaurosis Caused by Mutations in RPGRIP1
Recessive null mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) gene are the cause of LCA6 and account for 5% to 6% of the total patient population. RPGRIP1 has an essential role in the photoreceptor connecting cilia, and photoreceptors lacking RPGRIP1 are unable to...
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| Veröffentlicht in: | Cold Spring Harb Perspect Med |
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| 1. Verfasser: | |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Cold Spring Harbor Laboratory Press
2015
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4382728/ https://ncbi.nlm.nih.gov/pubmed/25414380 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a017384 |
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