Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone

Por Bleyer, A.J., Živná, M., Hulková, H., Hodanová, K., Vyletal, P., Sikora, J., Živný, J., Sovová, J., Hart, T.C., Adams, J.N., Elleder, M., Kapp, K., Haws, R., Cornell, L.D., Kmoch, S., Hart, P.S.
Publicado no Clin Nephrol (2010)

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)