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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Udgivet i:Sci Rep
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5610255/
https://ncbi.nlm.nih.gov/pubmed/28939808
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-11898-3
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