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A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.
Kohl, Susanne; Llavona, Pablo; Sauer, Alexandra; Reuter, Peggy; Weisschuh, Nicole; Kempf, Melanie; Dehmelt, Florian Alexander; Arrenberg, Aristides B; Sliesoraityte, Ieva; Zrenner, Eberhart; van Schooneveld, Mary J; Rudolph, Günther; Kühlewein, Laura; Wissinger, Bernd.
Afiliación
  • Kohl S; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen 72076, Germany.
  • Llavona P; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen 72076, Germany.
  • Sauer A; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen 72076, Germany.
  • Reuter P; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen 72076, Germany.
  • Weisschuh N; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen 72076, Germany.
  • Kempf M; University Eye Hospital, Centre for Ophthalmology, University of Tübingen, Universitätsklinikum Tübingen, Tübingen 72076, Germany.
  • Dehmelt FA; Center for Rare Eye Diseases, University of Tübingen, Tübingen 72076, Germany.
  • Arrenberg AB; Werner Reichardt Centre for Integrative Neuroscience and Institute of Neurobiology, University of Tübingen, Tübingen 72076, Germany.
  • Sliesoraityte I; Werner Reichardt Centre for Integrative Neuroscience and Institute of Neurobiology, University of Tübingen, Tübingen 72076, Germany.
  • Zrenner E; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen 72076, Germany.
  • van Schooneveld MJ; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen 72076, Germany.
  • Rudolph G; Werner Reichardt Centre for Integrative Neuroscience and Institute of Neurobiology, University of Tübingen, Tübingen 72076, Germany.
  • Kühlewein L; Department of Ophthalmology, Amsterdam University Medical Centre, Amsterdam 1100 DD, The Netherlands.
  • Wissinger B; Bartiméus Diagnostic Department, Zeist, The Netherlands.
Hum Mol Genet ; 30(13): 1218-1229, 2021 06 17.
Article en En | MEDLINE | ID: mdl-33891002
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Factores de Transcripción / Cromosomas Humanos Par 16 / Familia de Multigenes / Defectos de la Visión Cromática / Proteínas de Homeodominio / Duplicación Cromosómica / Distrofia del Cono Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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XML
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Factores de Transcripción / Cromosomas Humanos Par 16 / Familia de Multigenes / Defectos de la Visión Cromática / Proteínas de Homeodominio / Duplicación Cromosómica / Distrofia del Cono Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Alemania