Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration

Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant retinal dystrophy, characterised by extensive sub-retinal pigment epithelium (RPE) deposits, RPE atrophy, choroidal neovascularisation and photoreceptor cell death associated with severe visual loss. L-ORD shows striking phenotypic...

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Detalles Bibliográficos
Autores principales: Stanton, Chloe M., Borooah, Shyamanga, Drake, Camilla, Marsh, Joseph A., Campbell, Susan, Lennon, Alan, Soares, Dinesh C., Vallabh, Neeru A., Sahni, Jayashree, Cideciyan, Artur V., Dhillon, Baljean, Vitart, Veronique, Jacobson, Samuel G., Wright, Alan F., Hayward, Caroline
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5610255/
https://www.ncbi.nlm.nih.gov/pubmed/28939808
http://dx.doi.org/10.1038/s41598-017-11898-3

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