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A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features
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1995
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Unusual Clinical FeaturesImmunodeficienciesImmunologyPathologyDisease Gene IdentificationClinical GeneticsNovel Ser156cys MutationMendelian DisorderTissue InhibitorMolecular DiagnosticsInherited Metabolic DiseaseCell BiologyMolecular MedicineClinical DisordersRare DiseasesMolecular Diagnostic TechniquesGermany SearchSomatic VariantGenetic DisorderMetalloproteinDegenerative DiseaseMedicineConnective Tissue Disease
Journal Article A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features Get access Ute Felbor, Ute Felbor Institut für Humangenetik, Universität WürzburgD-97074 Wurzburg Search for other works by this author on: Oxford Academic PubMed Google Scholar Heidl Stöhr, Heidl Stöhr Institut für Humangenetik, Universität WürzburgD-97074 Wurzburg Search for other works by this author on: Oxford Academic PubMed Google Scholar Thomas Amann, Thomas Amann 1Augenklinik mit Poliklinik, Universität Erlangen-NürnbergD-91054 Erlangen, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar Ulrich Schönherr, Ulrich Schönherr 1Augenklinik mit Poliklinik, Universität Erlangen-NürnbergD-91054 Erlangen, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar Bernhard H.F. Weber Bernhard H.F. Weber * *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 4, Issue 12, December 1995, Pages 2415–2416, https://doi.org/10.1093/hmg/4.12.2415 Published: 01 December 1995 Article history Received: 08 August 1995 Revision received: 13 September 1995 Accepted: 13 September 1995 Published: 01 December 1995