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

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

Scientific reports, 2017-09, Vol.7 (1), p.12147-15, Article 12147 [Periódico revisado por pares]

England: Nature Publishing Group

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