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Achromatopsia mutations target sequential steps of ATF6 activation.
Chiang, Wei-Chieh; Chan, Priscilla; Wissinger, Bernd; Vincent, Ajoy; Skorczyk-Werner, Anna; Krawczynski, Maciej R; Kaufman, Randal J; Tsang, Stephen H; Héon, Elise; Kohl, Susanne; Lin, Jonathan H.
Afiliación
  • Chiang WC; Department of Pathology, University of California, San Diego, La Jolla, CA 92093.
  • Chan P; Department of Pathology, University of California, San Diego, La Jolla, CA 92093.
  • Wissinger B; Institute for Ophthalmic Research, University of Tubingen, D-72076 Tubingen, Germany.
  • Vincent A; Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, Canada M5T 3A9.
  • Skorczyk-Werner A; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806, Poznan, Poland.
  • Krawczynski MR; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806, Poznan, Poland.
  • Kaufman RJ; Center for Medical Genetics GENESIS, 60-601, Poznan, Poland.
  • Tsang SH; Degenerative Diseases Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, CA 92037.
  • Héon E; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Irving Comprehensive Cancer Center, Columbia University, New York, NY 10032.
  • Kohl S; Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, NY 10032.
  • Lin JH; Departments of Ophthalmology, Pathology & Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, NY 10032.
Proc Natl Acad Sci U S A ; 114(2): 400-405, 2017 01 10.
Article en En | MEDLINE | ID: mdl-28028229
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Defectos de la Visión Cromática / Factor de Transcripción Activador 6 / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Defectos de la Visión Cromática / Factor de Transcripción Activador 6 / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos