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Multiexon deletion alleles of ATF6 linked to achromatopsia.
Lee, Eun-Jin; Chiang, Wei-Chieh Jerry; Kroeger, Heike; Bi, Chloe Xiaoke; Chao, Daniel L; Skowronska-Krawczyk, Dorota; Mastey, Rebecca R; Tsang, Stephen H; Chea, Leon; Kim, Kyle; Lambert, Scott R; Grandjean, Julia Md; Baumann, Britta; Audo, Isabelle; Kohl, Susanne; Moore, Anthony T; Wiseman, R Luke; Carroll, Joseph; Lin, Jonathan H.
Afiliación
  • Lee EJ; Department of Ophthalmology, Shiley Eye Institute, and.
  • Chiang WJ; Department of Pathology, UCSD, San Diego, California, USA.
  • Kroeger H; Department of Ophthalmology, Stanford University, Stanford, California, USA.
  • Bi CX; Department of Pathology, UCSD, San Diego, California, USA.
  • Chao DL; Developmental Neurobiology Unit, Okinawa Institute of Science and Technology Graduate University, Okinawa, Japan.
  • Skowronska-Krawczyk D; Department of Pathology, UCSD, San Diego, California, USA.
  • Mastey RR; Department of Cellular Biology, University of Georgia, Athens, Georgia, USA.
  • Tsang SH; Department of Pathology, UCSD, San Diego, California, USA.
  • Chea L; Department of Ophthalmology, Shiley Eye Institute, and.
  • Kim K; Department of Ophthalmology, Shiley Eye Institute, and.
  • Lambert SR; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
  • Grandjean JM; Departments of Ophthalmology and Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.
  • Baumann B; Department of Pathology, Stanford University, Stanford, California, USA.
  • Audo I; Department of Pathology, UCSD, San Diego, California, USA.
  • Kohl S; Department of Ophthalmology, Stanford University, Stanford, California, USA.
  • Moore AT; Department of Molecular Medicine, The Scripps Research Institute, San Diego, California, USA.
  • Wiseman RL; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
  • Carroll J; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Lin JH; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC1423, Paris, France.
JCI Insight ; 5(7)2020 04 09.
Article en En | MEDLINE | ID: mdl-32271167
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Secuencia de Bases / Defectos de la Visión Cromática / Exones / Eliminación de Secuencia / Alelos / Factor de Transcripción Activador 6 Tipo de estudio: Clinical_trials / Prognostic_studies Límite: Adolescent / Female / Humans / Male Idioma: En Revista: JCI Insight Año: 2020 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Secuencia de Bases / Defectos de la Visión Cromática / Exones / Eliminación de Secuencia / Alelos / Factor de Transcripción Activador 6 Tipo de estudio: Clinical_trials / Prognostic_studies Límite: Adolescent / Female / Humans / Male Idioma: En Revista: JCI Insight Año: 2020 Tipo del documento: Article