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

Johan T. Den Dunnen, Thirsa Kraayenbrink, Mary Van Schooneveld, Esther De Van Vosse, Paulus T.V.M. De Jong, Jacoline B. Ten Brink, Ellen Schuurman, Nel Tijmes, Gen Jan B. Van Ommen, Arthur A.B. Bergen, Grazia Andolfi, Eugenio Montini, Yün Li, Claudine Oudet, Hanno Bolz, Josselyne Kaplan, Ulrike Orth, Andreas Gal, Andre Hanauer, Anna Maria BardelliCarmen Ayuso, Pierre Bitoun, Valerio Ventruto, Bruno Dallapiccola, Andrea Ballabio, Brunella Franco, K. T. Hiriyanna, Eve L. Bingham, Christina McHenry, Hemant Pawar, Caraline Coats, Thomas Darga, Julia E. Richards, Paul A. Sieving, Laura Huopaniemi, Anne Rantala, Thomas Rosenberg, Niklas Dahl, Alan Wright, Albert De La Chapelle, Tiina Alitalo, Steffen Lenzner, Bodo Brunner, Silke Feil, Beate Niesler, Ute Schulz, Alfred Pinckers, Anita Blankennagel, Klaus Ruether, Ulrich Kellner, Gudrun Rappold, H. Hilger Ropers, Vera Kalscheuer, Wolfgang Berger, Dorothy Trump, Susannah M. Walpole, Alexia Nicolaou, Simon A. Gaythor, Dimitris Pimenides, Nick D.L. George, Anthony T. Moore, John R.W. Yates

Research output: Contribution to journal › Article › peer-review

171 Scopus citations

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