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Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy
Authors:Sibel Ugur Iseri  Alexander W Wyatt  Gudrun Nürnberg  Christian Kluck  Peter Nürnberg  Graham E Holder  Ed Blair  Alison Salt  Nicola K Ragge
Institution:(1) Department of Physiology, Anatomy, and Genetics, University of Oxford, Le Gros Clark Building, South Parks Rd, Oxford, OX1 3QX, UK;(2) Cologne Center for Genomics, University of Cologne, Cologne, Germany;(3) Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany;(4) Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany;(5) Department of Electrophysiology, Moorfields Eye Hospital, London, UK;(6) Department of Clinical Genetics, Oxford Radcliffe Hospitals, Oxford, UK;(7) Department of Paediatrics, Moorfields Eye Hospital, London, UK;(8) Wolfson Neurodisability Service, Great Ormond St Hospital, London, UK;(9) Department of Adnexal Surgery, Moorfields Eye Hospital, London, UK;(10) Department of Ophthalmology, Birmingham Children’s Hospital, Birmingham, UK;
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