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Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations

Renner, A B, Fiebig, B, Weber, Bernhard H. F. , Wissinger, B, Andreasson, S, Gal, A, Cropp, E, Kohl, S and Kellner, U (2009) Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. American Journal of Ophthalmology 147 (3), pp. 518-530.

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Abstract

Purpose To describe the phenotypic variability in 22 patients with PRPH2 gene mutations and to report six novel mutations. Design Retrospective study. Methods Clinical examinations included color vision testing, perimetry, fundus autofluorescence (FAF), fluorescein angiography, optical coherence tomography (OCT), and full-field and multifocal electroretinography (International Society for ...

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Item type:Article
Date:2009
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1016/j.ajo.2008.09.007DOI
19038374PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:35475
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