Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells

door Schwarz, Nele, Carr, Amanda-Jayne, Lane, Amelia, Moeller, Fabian, Chen, Li Li, Aguilà, Mònica, Nommiste, Britta, Muthiah, Manickam N., Kanuga, Naheed, Wolfrum, Uwe, Nagel-Wolfrum, Kerstin, da Cruz, Lyndon, Coffey, Peter J., Cheetham, Michael E., Hardcastle, Alison J.
Gepubliceerd in Hum Mol Genet (2015)

Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read...

door Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Müller‐Hofstede, Cornelie, Charbel Issa, Peter, Heller, Raoul, Beck, Bodo, Rüther, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stöhr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Nagel‐Wolfrum, Kerstin, Khan, Arif O., Bolz, Hanno J.
Gepubliceerd in Mol Genet Genomic Med (2017)