![]() ![]() Using homozygosity mapping and whole-exome and candidate gene sequencing, we identified ten families carrying six homozygous and two compound-heterozygous mutations in the ATF6 gene (encoding activating transcription factor 6A), a key regulator of the unfolded protein response (UPR) and cellular endoplasmic reticulum (ER) homeostasis. Department of Ophthalmology, University of California, San Diego, La Jolla, California, USA.Īchromatopsia (ACHM) is an autosomal recessive disorder characterized by color blindness, photophobia, nystagmus and severely reduced visual acuity. 17 1] Department of Pathology, University of California, San Diego, La Jolla, California, USA.Department of Pathology and Cell Biology, Columbia University, New York, New York, USA. Institute of Human Nutrition, Columbia University, New York, New York, USA. Brown Glaucoma Laboratory, Columbia University, New York, New York, USA. Jonas Laboratory of Stem Cell and Regenerative Medicine, Columbia University, New York, New York, USA. 16 1] Department of Ophthalmology, Columbia University, New York, New York, USA.15 Degenerative Diseases Program, Sanford-Burnham Medical Research Institute, La Jolla, California, USA.Werner Reichardt Center for Integrative Neuroscience, University of Tübingen, Tübingen, Germany. 14 1] Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.13 1] University College London Institute of Ophthalmology, University College London, London, UK.Ophthalmology Department, University of California San Francisco Medical School, San Francisco, California, USA. 12 1] University College London Institute of Ophthalmology, University College London, London, UK.11 McGill Ocular Genetics Centre, McGill University Health Centre, Montreal, Quebec, Canada.Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands. 10 1] Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.9 Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.8 University Eye Hospital, Ludwig Maximilians University, Munich, Germany.Institute of Human Genetics, Technische Universität München, Munich, Germany. 7 1] Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.6 Medical Genetics, IWK Health Centre, Halifax, Nova Scotia, Canada.5 Department of Ophthalmology and Vision Sciences, Programme of Genetics and Genomic Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. ![]() 4 Clinical Genetics Service, Regional Hospital Bozen, Bozen, Italy.Edward Harkness Eye Institute, New York Presbyterian Hospital, New York, New York, USA. 3 1] Department of Ophthalmology, Columbia University, New York, New York, USA.2 Department of Pathology, University of California, San Diego, La Jolla, California, USA.1 Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany. ![]()
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