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A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity.
Koenighofer, Martin; Parzefall, Thomas; Frohne, Alexandra; Frei, Elisabeth; Waldstein, Sebastian M; Mitulovic, Goran; Schoefer, Christian; Frei, Klemens; Lucas, Trevor.
Affiliation
  • Koenighofer M; Department of Otorhinolaryngology, Head and Neck Surgery, Medical University of Vienna, Vienna, Austria.
  • Parzefall T; Department of Otorhinolaryngology, Head and Neck Surgery, Medical University of Vienna, Vienna, Austria. Electronic address: thomas.parzefall@meduniwien.ac.at.
  • Frohne A; Center of Anatomy and Cell Biology, Orphan Disease Genetics Group, Medical University of Vienna, Vienna, Austria.
  • Frei E; Center of Anatomy and Cell Biology, Orphan Disease Genetics Group, Medical University of Vienna, Vienna, Austria.
  • Waldstein SM; Department of Ophthalmology and Optometry, Medical University of Vienna, Vienna, Austria.
  • Mitulovic G; Core Facility Proteomics, Clinical Institute of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.
  • Schoefer C; Center of Anatomy and Cell Biology, Orphan Disease Genetics Group, Medical University of Vienna, Vienna, Austria.
  • Frei K; Department of Otorhinolaryngology, Head and Neck Surgery, Medical University of Vienna, Vienna, Austria.
  • Lucas T; Center of Anatomy and Cell Biology, Orphan Disease Genetics Group, Medical University of Vienna, Vienna, Austria.
Exp Eye Res ; 205: 108497, 2021 04.
Article in En | MEDLINE | ID: mdl-33596443
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vision Disorders / Visual Acuity / Glaucoma, Angle-Closure / Microphthalmos / Mutation, Missense / Hyperopia / Membrane Proteins Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: Exp Eye Res Year: 2021 Document type: Article Affiliation country: Austria Country of publication: United kingdom
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vision Disorders / Visual Acuity / Glaucoma, Angle-Closure / Microphthalmos / Mutation, Missense / Hyperopia / Membrane Proteins Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: Exp Eye Res Year: 2021 Document type: Article Affiliation country: Austria Country of publication: United kingdom