Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

Por Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H., MacDonald, I.M., Lopez, I., Sun, V., Keser, V., Khan, A., Stránecký, V., Hartmannová, H., Přistoupilová, A., Hodaňová, K., Piherová, L., Kuchař, L., Baxová, A., Chen, R., Barsottini, O.G.P., Pyle, A., Griffin, H., Splitt, M., Sallum, J., Tolmie, J.L., Sampson, J.R., Chinnery, P., Canada, Care4Rare, Banin, E., Sharon, D., Dutta, S., Grebler, R., Helfrich-Foerster, C., Pedroso, J.L., Kretzschmar, D., Cayouette, M., Koenekoop, R.K.
Publicado no Nat Commun (2015)