Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

Autor: Caraline L. Coats, André Hanauer, Ulrich Kellner, E.J.M. Schuurman, Niklas Dahl, Beate Niesler, N. Tijmes, Susannah M. Walpole, Ute Schulz, Anne Rantala, S.A. Gaythor, A.M. Bardelli, Eugenio Montini, G.J.B. van Ommen, Christina L. McHenry, C. Oudet, A. Blankenagel, J.E. Richards, H.G. Brunner, Andrea Ballabio, E. van de Vosse, P.T.V.M. de Jong, J.T. Dendunnen, Carmen Ayuso, E.L. Bingham, L Huopaniemi, Gudrun A. Rappold, K. Ruether, Thomas Rosenberg, Vera M. Kalscheuer, V. Ventruto, Paul A. Sieving, Arthur A.B. Bergen, Hanno J. Bolz, Ulrike Orth, T. Kraayenbrink, D. Pimenides, M.J. van Schooneveld, Andreas Gal, Alan F. Wright, N.D.L. George, Grazia Andolfi, F.J. Diaz, Brunella Franco, H.H. Ropers, Silke Feil, John R.W. Yates, Wolfgang Berger, Tiina Alitalo, Alfred J. L. G. Pinckers, A. dela Chapelle, U.T. Moore, J. Kaplan, Dorothy Trump, Steffen Lenzner, Pierre Bitoun, A. Nicolaou, K.T. Hiriyana, Hemant Pawar, T. Darga, J.B. ten Brink

Publikováno v: Human molecular genetics, 7(7), 1185-1192. Oxford University Press
Human Molecular Genetics, 7(7), 1185-1192. Oxford University Press

X-linked retinoschisis (XLRS) is the most common cause of juvenile macular degeneration in males, resulting in vision loss early in life. The gene involved in XLRS was identified recently. It encodes a protein with a disoidin domain, suggested to be

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