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BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to bardet-biedl syndrome

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第一作者: Estrada-Cuzcano,A.
作者单位: Institute for Ophthalmic Research, Centre for Ophthalmology, University Tu Bingen, Tübingen, Germany [1] Molecular Genetics Laboratory, University Eye Hospital, Tü bingen, Germany [2] Unit of Child Neurology and Psychiatry, C. Mondino Institute of Neurology, University di Pavia [3] McGill Ocular Genetics Laboratory, Montreal Children's Hospital, McGill University Health Centre [4] Institut National de la Santé et de la Recherche Médicale (INSERM) U583, Institute for [5] Genetics Department, Instituto de Investigación Sanitaria (IIS)-Fundación Jimenez Díaz, Centro de [6] Department of Ophthalmology, Hopital Gui de Chauliac, Montpellier University 1, Montpellier, France [7] Department of Ophthalmology, A. Fiorini Hospital, Polo Pontino, University of Rome la Sapienza [8] Department of Clinical Genetics, Center for HumanGenetics, University Hospital Leuven, Leuven [9] Department of Human Genetics, Radboud University Nijmegen, Nijmegen, Netherlands [10] Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel [11] Telethon Institute of Genetics and Medicine, Naples, Italy, Medical Genetics, Department of General [12] Department of Human Genetics, Radboud University Nijmegen, Nijmegen, Netherlands, Department of [13] Department of Human Genetics, Radboud University Nijmegen, Nijmegen, Netherlands, Radboud [14] Department of Ophthalmology, Radboud University Nijmegen, Medical Centre, PO Box 9101, 6500 HB6500 [15] Centre for Medical Genetics, Ghent University Hospital and Ghent University, Ghent, Belgium [16] Center of Rare Retinal Disease, AugenZentrum Siegburg, Siegburg, Germany [17]
发布时间 2013-11-20
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