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.

dc.contributor.author	Pfister, Markus
dc.date.accessioned	2019-05-10T15:04:15Z
dc.date.available	2019-05-10T15:04:15Z
dc.date.issued	2017
dc.identifier.issn	2324-9269
dc.identifier.uri	http://hdl.handle.net/10900/88644
dc.language.iso	en	de_DE
dc.publisher	Wiley	de_DE
dc.relation.uri	http://dx.doi.org/10.1002/mgg3.312	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	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	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190131163842_01293
utue.publikation.seiten	531-552	de_DE
utue.personen.roh	Neuhaus, Christine
utue.personen.roh	Eisenberger, Tobias
utue.personen.roh	Decker, Christian
utue.personen.roh	Nagl, Sandra
utue.personen.roh	Blank, Cornelia
utue.personen.roh	Pfister, Markus
utue.personen.roh	Kennerknecht, Ingo
utue.personen.roh	Mueller-Hofstede, Cornelie
utue.personen.roh	Issa, Peter Charbel
utue.personen.roh	Heller, Raoul
utue.personen.roh	Beck, Bodo
utue.personen.roh	Ruether, Klaus
utue.personen.roh	Mitter, Diana
utue.personen.roh	Rohrschneider, Klaus
utue.personen.roh	Steinhauer, Ute
utue.personen.roh	Korbmacher, Heike M.
utue.personen.roh	Huhle, Dagmar
utue.personen.roh	Elsayed, Solaf M.
utue.personen.roh	Taha, Hesham M.
utue.personen.roh	Baig, Shahid M.
utue.personen.roh	Stoehr, Heidi
utue.personen.roh	Preising, Markus
utue.personen.roh	Markus, Susanne
utue.personen.roh	Moeller, Fabian
utue.personen.roh	Lorenz, Birgit
utue.personen.roh	Nagel-Wolfrum, Kerstin
utue.personen.roh	Khan, Arif O.
utue.personen.roh	Bolz, Hanno J.
dcterms.isPartOf.ZSTitelID	Molecular Genetics & Genomic Medicine	de_DE
dcterms.isPartOf.ZS-Issue	5	de_DE
dcterms.isPartOf.ZS-Volume	5	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE