Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa

Authors:	Ozgül R?za Köksal Siemiatkowska Anna M Yücel Didem Myers Connie A Collin Rob W J Zonneveld Marijke N Beryozkin Avigail Banin Eyal Hoyng Carel B van den Born L Ingeborgh;European Retinal Disease Consortium Bose Ron Shen Wei Sharon Dror Cremers Frans P M Klevering B Jeroen den Hollander Anneke I Corbo Joseph C

Institution:	¹Institute of Child Health and Metabolism Unit, Department of Pediatrics, Hacettepe University, Ankara 06100, Turkey;²Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HC Nijmegen, The Netherlands;³Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HC Nijmegen, The Netherlands;⁴Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA;⁵Department of Ophthalmology, Radboud University Nijmegen Medical Centre, 6500 HC Nijmegen, The Netherlands;⁶Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel;⁷The Rotterdam Eye Hospital, 3011 BH Rotterdam, The Netherlands;⁸Division of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA

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