Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants

• Nicole Weisschuh ,

  Roles Conceptualization, Investigation, Writing – original draft, Writing – review & editing

  * E-mail: nicole.weisschuh@uni-tuebingen.de

  Affiliation Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany

  https://orcid.org/0000-0002-1047-6227

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• Simone Schimpf-Linzenbold,

  Roles Investigation, Writing – review & editing

  Affiliations Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany, CeGaT GmbH and Praxis für Humangenetik Tübingen, Tübingen, Germany

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• Pascale Mazzola,

  Roles Investigation, Writing – review & editing

  Affiliation Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

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• Sinja Kieninger,

  Roles Investigation, Writing – review & editing

  Affiliation Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany

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• Ting Xiao,

  Roles Investigation, Writing – review & editing

  Affiliation Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany

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• Ulrich Kellner,

  Roles Investigation, Writing – review & editing

  Affiliations Zentrum für seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany, RetinaScience, Bonn, Germany

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• Teresa Neuhann,

  Roles Investigation, Writing – review & editing

  Affiliation Medical Genetics Center, Munich, Germany

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• Carina Kelbsch,

  Roles Investigation, Writing – review & editing

  Affiliation Centre for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany

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• Felix Tonagel,

  Roles Investigation, Writing – review & editing

  Affiliation Centre for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany

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• Helmut Wilhelm,

  Roles Investigation, Writing – review & editing

  Affiliation Centre for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany

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• Susanne Kohl,

  Roles Writing – review & editing

  Affiliation Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany

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• Bernd Wissinger

  Roles Writing – review & editing

  Affiliation Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany

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