Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs-Reference-Cited by-同舟云学术

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs

Published:2017-01-24 Issue:1 Volume:58 Page:394
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Schulz Heidi L.¹,Grassmann Felix¹,Kellner Ulrich²,Spital Georg³,Rüther Klaus⁴,Jägle Herbert⁵,Hufendiek Karsten⁶,Rating Philipp⁷,Huchzermeyer Cord⁸,Baier Maria J.¹,Weber Bernhard H. F.¹,Stöhr Heidi¹

Affiliation:

1. Institute of Human Genetics, University of Regensburg, Regensburg, Germany

2. Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany 3RetinaScience, Bonn, Germany

3. Department of Ophthalmology, St. Franziskus-Hospital, Münster, Germany

4. Augenarztpraxis, Berlin, Germany

5. Department of Ophthalmology, University Hospital Regensburg, Regensburg, Germany

6. University Eye Hospital Hannover Medical School, Hannover, Germany

7. Department of Ophthalmology, University Hospital Essen, Essen, Germany

8. Department of Ophthalmology, University Hospital Erlangen, Erlangen, Germany

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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