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

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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

Author: 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
Published in: Molecular Genetics & Genomic Medicine (2017), Bd. 5, H. 5, S. 531-552
Verlagsangabe: Wiley
Language: English
Full text: http://dx.doi.org/10.1002/mgg3.312
ISSN: 2324-9269
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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