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Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies
Authors:Southgate Laura  Machado Rajiv D  Snape Katie M  Primeau Martin  Dafou Dimitra  Ruddy Deborah M  Branney Peter A  Fisher Malcolm  Lee Grace J  Simpson Michael A  He Yi  Bradshaw Teisha Y  Blaumeiser Bettina  Winship William S  Reardon Willie  Maher Eamonn R  FitzPatrick David R  Wuyts Wim  Zenker Martin  Lamarche-Vane Nathalie  Trembath Richard C
Affiliation:1Department of Medical and Molecular Genetics, King's College London, School of Medicine, Guy's Hospital, London, London SE1 9RT, UK;2Department of Anatomy and Cell Biology, McGill University, 3640 University Street, Montreal, Quebec H3A 2B2, Canada;3Department of Clinical Genetics, Guy's Hospital, London SE1 9RT, UK;4Medical Research Council (MRC) Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK;5Department of Medical Genetics, University and University Hospital of Antwerp, Prins Boudewijnlaan 43, 2650 Edegem, Belgium;6Nelson R. Mandela School of Medicine, Faculty of Health Sciences, Department of Paediatrics and Child Health, University of KwaZulu-Natal, Durban 4041, South Africa;7National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland;8Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, Institute of Biomedical Research, University of Birmingham, Birmingham B15 2TT, UK;9West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham B15 2TG, UK;10Institute of Human Genetics, University Hospital Erlangen, University of Erlangen-Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany;11Institute of Human Genetics, University Hospital Magdeburg, Leipziger Str. 44, 39120 Magdeburg, Germany
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