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Research Article

A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier

  • Anne Wöhlke,

    Affiliation: Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany

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  • Ute Philipp,

    Affiliation: Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany

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  • Patricia Bock,

    Affiliation: Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany

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  • Andreas Beineke,

    Affiliation: Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany

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  • Peter Lichtner,

    Affiliation: Helmholtz Zentrum München, Institute of Human Genetics, Neuherberg, Germany

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  • Thomas Meitinger,

    Affiliations: Helmholtz Zentrum München, Institute of Human Genetics, Neuherberg, Germany, Technische Universität München, Institute of Human Genetics, München, Germany

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  • Ottmar Distl mail

    ottmar.distl@tiho-hannover.de

    Affiliation: Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany

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  • Published: October 13, 2011
  • DOI: 10.1371/journal.pgen.1002304

About the Authors

Anne Wöhlke, Ute Philipp, Ottmar Distl
Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany
Patricia Bock, Andreas Beineke
Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany
Peter Lichtner, Thomas Meitinger
Helmholtz Zentrum München, Institute of Human Genetics, Neuherberg, Germany
Thomas Meitinger
Technische Universität München, Institute of Human Genetics, München, Germany

Corresponding Author

Email: ottmar.distl@tiho-hannover.de

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: OD AW UP. Performed the experiments: AW UP PL. Analyzed the data: OD AW PL TM. Contributed reagents/materials/analysis tools: AW OD UP PB AB PL TM. Wrote the paper: OD AW. Pathological examinations: PB AB.