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| http://purl.uniprot.org/citations/25414380 | http://www.w3.org/2000/01/rdf-schema#comment | "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 maintain the light sensing outer segments. As a result, patients lose retinal functions at an early age but retain photoreceptors in the central retina well into adulthood thus holding out the prospect for gene augmentation therapies. Laboratory studies in animal models have demonstrated efficacy of gene therapy in slowing disease progression. With further refinement in the design of the replacement gene construct, clinical trials for Leber congenital amaurosis (LCA) caused by RPGRIP1 mutations could be in the offing in the near future."xsd:string |
| http://purl.uniprot.org/citations/25414380 | http://purl.org/dc/terms/identifier | "doi:10.1101/cshperspect.a017384"xsd:string |
| http://purl.uniprot.org/citations/25414380 | http://purl.uniprot.org/core/author | "Li T."xsd:string |
| http://purl.uniprot.org/citations/25414380 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/25414380 | http://purl.uniprot.org/core/name | "Cold Spring Harb Perspect Med"xsd:string |
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| http://purl.uniprot.org/citations/25414380 | http://purl.uniprot.org/core/title | "Leber congenital amaurosis caused by mutations in RPGRIP1."xsd:string |
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