Identification and functional characterization of a novel MYOC
mutation in two primary open angle glaucoma families from The
Netherlands
Barend F.T. Hogewind, Katarina Gaplovska-Kysela, Thomas Theelen, Frans P.M. Cremers, Gary H. F. Yam,
Carel B. Hoyng, Arijit Mukhopadhyay
Erosive Vitreoretinopathy and Wagner Disease Are
Caused by Intronic Mutations in CSPG2/Versican That
Result in an Imbalance of Splice Variants.
Arijit Mukhopadhyay; Konstantinos Nikopoulos; Alessandra Maugeri;
Arjan P. M. de Brouwer; C. Eric van Nouhuys; Camiel J. F. Boon; Rahat Perveen;
Hester A. A. Zegers; Dienke Wittebol-Post; Pieter R. van den Biesen;
Saskia D. van der Velde-Visser; Han G. Brunner; Graeme C. M. Black;
Carel B. Hoyng; and Frans P. M. Cremers