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DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.
Kieninger, Sinja; Xiao, Ting; Weisschuh, Nicole; Kohl, Susanne; Rüther, Klaus; Kroisel, Peter Michael; Brockmann, Tobias; Knappe, Steffi; Kellner, Ulrich; Lagrèze, Wolf; Mazzola, Pascale; Haack, Tobias B; Wissinger, Bernd; Tonagel, Felix.
Affiliation
  • Kieninger S; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
  • Xiao T; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
  • Weisschuh N; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
  • Kohl S; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
  • Rüther K; Facharztpraxis für Augenheilkunde, Berlin-Mitte, Germany.
  • Kroisel PM; Diagnostic & Research Institute of Human Genetics, Diagnostic & Research Centre for Molecular BioMedicine, Medical University of Graz, Graz, Austria.
  • Brockmann T; Department of Ophthalmology, Universitätsmedizin Rostock, University of Rostock, Rostock, Germany.
  • Knappe S; Department of Ophthalmology, Universitätsmedizin Rostock, University of Rostock, Rostock, Germany.
  • Kellner U; Zentrum für Seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany.
  • Lagrèze W; RetinaScience, Bonn, Germany.
  • Mazzola P; Eye Centre, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Haack TB; Institute of Human Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Wissinger B; Institute of Human Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Tonagel F; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
J Med Genet ; 59(10): 1027-1034, 2022 Oct.
Article in En | MEDLINE | ID: mdl-35091433
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Optic Atrophy, Hereditary, Leber / HSP40 Heat-Shock Proteins Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: J Med Genet Year: 2022 Type: Article Affiliation country: Germany
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Optic Atrophy, Hereditary, Leber / HSP40 Heat-Shock Proteins Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: J Med Genet Year: 2022 Type: Article Affiliation country: Germany