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[해외논문] Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene (CRX) Essential for Maintenance of the Photoreceptor 원문보기

Cell, v.91 no.4, 1997년, pp.543 - 553  

Freund, Carol L (Program in Developmental Biology, The Research Institute, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada) ,  Gregory-Evans, Cheryl Y (Department of Molecular Genetics, Institute of Ophthalmology University College, London EC1V 9EL, United Kingdom) ,  Furukawa, Takahisa (Department of Genetics, Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, USA) ,  Papaioannou, Myrto (Unit of Prenatal Diagnosis, Center for Thalassemia, Sevastoupoleos Street, Athens Gr-11526, Greece) ,  Looser, Jens (Department of Genetics, The Research Institute, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada) ,  Ploder, Lynda (Department of Genetics, The Research Institute, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada) ,  Bellingham, James (Department of Molecular Genetics, Institute of Ophthalmology University College, London EC1V 9EL, United Kingdom) ,  Ng, David (Program in Developmental Biology, The Research Institute, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada) ,  Herbrick, Jo-Anne S (Department of Genetics, The Research Institute, Hospital for Sick Children, Toronto, Onta) ,  Duncan, Alessandra ,  Scherer, Stephen W ,  Tsui, Lap-Chee ,  Loutradis-Anagnostou, Aphrodite ,  Jacobson, Samuel G ,  Cepko, Constance L ,  Bhattacharya, Shomi S ,  McInnes, Roderick R

Abstract AI-Helper 아이콘AI-Helper

AbstractGenes associated with inherited retinal degeneration have been found to encode proteins required for phototransduction, metabolism, or structural support of photoreceptors. Here we show that mutations in a novel photoreceptor-specific homeodomain transcription factor gene (CRX) cause an auto...

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