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

Neuhaus, Christine; Eisenberger, Tobias; Decker, Christian; Nagl, Sandra; Blank, Cornelia; Pfister, Markus; Kennerknecht, Ingo; Mueller-Hofstede, Cornelie; Issa, Peter Charbel; Heller, Raoul; Beck, Bodo; Ruether, Klaus; Mitter, Diana; Rohrschneider, Klaus; Steinhauer, Ute; Korbmacher, Heike M.; Huhle, Dagmar; Elsayed, Solaf M.; Taha, Hesham M.; Baig, Shahid M.; Stoehr, Heidi; Preising, Markus; Markus, Susanne; Moeller, Fabian; Lorenz, Birgit; Nagel-Wolfrum, Kerstin; Khan, Arif O.; Bolz, Hanno J.

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

Autor(en):

Neuhaus, Christine; Eisenberger, Tobias; Decker, Christian; Nagl, Sandra; Blank, Cornelia; Pfister, Markus; Kennerknecht, Ingo; Mueller-Hofstede, Cornelie; Issa, Peter Charbel; Heller, Raoul; Beck, Bodo; Ruether, Klaus; Mitter, Diana; Rohrschneider, Klaus; Steinhauer, Ute; Korbmacher, Heike M.; Huhle, Dagmar; Elsayed, Solaf M.; Taha, Hesham M.; Baig, Shahid M.; Stoehr, Heidi; Preising, Markus; Markus, Susanne; Moeller, Fabian; Lorenz, Birgit; Nagel-Wolfrum, Kerstin; Khan, Arif O.; Bolz, Hanno J.

Tübinger Autor(en):

Pfister, Markus

Erschienen in:

Molecular Genetics & Genomic Medicine (2017), Bd. 5, H. 5, S. 531-552

Verlagsangabe:

Wiley

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1002/mgg3.312

ISSN:

2324-9269