Identification of a PRPF4 Loss-of-Function Variant That Abrogates U4/U6.U5 Tri-snRNP Integration and Is Associated with Retinitis Pigmentosa

• Bastian Linder,

  Current address: Department of Pharmacology, Weill Cornell Medical College, New York, New York, United States of America

  Affiliation Department of Biochemistry, University of Würzburg, Würzburg, Germany

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• Anja Hirmer,

  Affiliation Department of Biochemistry, University of Würzburg, Würzburg, Germany

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• Andreas Gal,

  Affiliation Department of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

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• Klaus Rüther,

  Affiliation Department of Ophthalmology, Sankt Gertrauden-Krankenhaus, Berlin, Germany

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• Hanno Jörn Bolz,

  Affiliations Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany, Bioscientia Center for Human Genetics, Ingelheim, Germany

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• Christoph Winkler,

  Affiliation Department of Biological Sciences, National University of Singapore, Singapore, Singapore

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• Bernhard Laggerbauer,

  Current address: Institute of Pharmacology and Toxicology, Technical University of Munich, Munich, Germany

  Affiliation Department of Biochemistry, University of Würzburg, Würzburg, Germany

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• Utz Fischer

  * E-mail: utz.fischer@biozentrum.uni-wuerzburg.de

  Affiliation Department of Biochemistry, University of Würzburg, Würzburg, Germany

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