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Mutations in the spliceosome component CWC27 cause retinal degeneration with or without additional developmental anomalies por Xu, M, Xie, YA, Abouzeid, H, Gordon, CT, Fiorentino, A, Sun, Z, Lehman, A, Osman, IS, Dharmat, R, Riveiro-Alvarez, R, Bapst-Wicht, L, Babino, D, Arno, G, Busetto, V, Zhao, L, Li, H, Lopez-Martinez, MA, Azevedo, LF, Hubert, L, Pontikos, N, Eblimit, A, Lorda-Sanchez, I, Kheir, V, Plagnol, V, Oufadem, M, Soens, ZT, Yang, L, Bole-Feysot, C, Pfundt, R, Allaman-Pillet, N, Nitschké, P, Cheetham, ME, Lyonnet, S, Agrawal, SA, Li, H, Pinton, G, Michaelides, M, Besmond, C, Li, Y, Yuan, Z, Von Lintig, J, Webster, AR, Le Hir, H, Stoilov, P, UK Inherited Retinal Dystrophy Consortium, Halford, S, Amiel, J, Hardcastle, AJ, Ayuso, C, Sui, R, Chen, R, Allikmets, R, Schorderet, DF
Publicado em 2017Journal article