Meeting Abstract

High-coverage next-generation sequencing (NGS) for retinal dystrophies and Usher syndrome: High diagnostic yield, CNV detection, novel disease mechanisms and therapy targets


AutorenlisteBolz, Hanno; Neuhaus, Christine; Preising, Markus; Khan, Arif; Gliem, Martin; Issa, Peter Charbel; Wolfrum, Uwe; Gal, Andreas; Lorenz, Birgit; Eisenberger, Tobias

Jahr der Veröffentlichung2013

ZeitschriftInvestigative Ophthalmology & Visual Science

Bandnummer54

Heftnummer15

ISSN0146-0404

eISSN1552-5783

VerlagAssociation for Research in Vision and Ophthalmology



Zitierstile

Harvard-ZitierstilBolz, H., Neuhaus, C., Preising, M., Khan, A., Gliem, M., Issa, P., et al. (2013) High-coverage next-generation sequencing (NGS) for retinal dystrophies and Usher syndrome: High diagnostic yield, CNV detection, novel disease mechanisms and therapy targets, Investigative Ophthalmology & Visual Science, 54(15)

APA-ZitierstilBolz, H., Neuhaus, C., Preising, M., Khan, A., Gliem, M., Issa, P., Wolfrum, U., Gal, A., Lorenz, B., & Eisenberger, T. (2013). High-coverage next-generation sequencing (NGS) for retinal dystrophies and Usher syndrome: High diagnostic yield, CNV detection, novel disease mechanisms and therapy targets. Investigative Ophthalmology & Visual Science. 54(15).



Schlagwörter


537 gene screening539 genetics696 retinal degenerations: hereditary


Nachhaltigkeitsbezüge


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