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C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.

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第一作者： Christina,Gerth-Kahlert

第一单位： Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.

作者： Christina,Gerth-Kahlert ^[1] ; Amit,Tiwari ^[2] ; James V M,Hanson ^[1] ; Vaishnavi,Batmanabane ^[3] ; Elias,Traboulsi ^[4] ; Mark E,Pennesi ^[5] ; Abdullah A,Al-Qahtani ^[6] ; Byron L,Lam ^[7] ; John,Heckenlively ^[8] ; Sandrine A,Zweifel ^[1] ; Ajoy,Vincent ^[3] ; Fabienne,Fierz ^[9] ; Daniel,Barthelmes ^[1] ; Kari,Branham ^[8] ; Naheed,Khan ^[8] ; Angela,Bahr ^[2] ; Luzy,Baehr ^[2] ; István,Magyar ^[2] ; Samuel,Koller ^[2] ; Silvia,Azzarello-Burri ^[10] ; Dunja,Niedrist ^[10] ; Elise,Heon ^[3] ; Wolfgang,Berger ^[11]

作者单位： Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland. ^[1] Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland. ^[2] Department of Ophthalmology and Vision Sciences, The Hospital of Sick Children, Toronto, Canada. ^[3] Cole Eye Institute, Cleveland Clinic, Cleveland, United States. ^[4] Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, Portland, Oregon, United States. ^[5] Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, Portland, Oregon, United States 6King Fahd University Hospital, University of Dammam, Dammam, Saudi Arabia. ^[6] Bascom Palmer Eye Institute, Miami, United States. ^[7] University of Michigan Department of Ophthalmology and Visual Sciences, Ann Arbor, Michigan, United States. ^[8] Eye Clinic, Lucerne Cantonal Hospital, Lucerne, Switzerland. ^[9] Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland. ^[10] Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland 11Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland 12Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland. ^[11]