Publication
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26
mutated in Heimler syndrome
Christine Neuhaus, Tobias Eisenberger, Christian Decker, Sandra Nagl, Cornelia Blank, Markus Pfister, Ingo Kennerknecht, Cornelie Müller-Hofstede, Peter Charbel Issa, Raoul Heller, Bodo Beck, Klaus Rüther, Diana Mitter, Klaus Rohrschneider, Ute Steinhauer, Heike M. Korbmacher, Dagmar Huhle, Solaf M. Elsayed, Hesham M. Taha, Shahid M. Baig, Heidi Stöhr, Markus Preising, Susanne Markus, Fabian Moeller, Birgit Lorenz, Kerstin Nagel-Wolfrum, Arif O. Khan, Hanno J. Bolz
Molecular Genetics & Genomic Medicine, July 2017, Wiley
DOI: 10.1002/mgg3.312