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Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome
Authors:Gilles Morin  Nadina Ortiz Bruechle  Amrathlal Rabbind Singh  Cordula Knopp  Guillaume Jedraszak  Miriam Elbracht  Dominique Brémond‐Gignac  Kathi Hartmann  Henri Sevestre  Peter Deutz  Didier Hérent  Peter Nürnberg  Bernard Roméo  Kerstin Konrad  Michèle Mathieu‐Dramard  Johannes Oldenburg  Elisabeth Bourges‐Petit  Yuequan Shen  Klaus Zerres  Halima Ouadid‐Ahidouch  Jacques Rochette
Affiliation:1. Department of Molecular and Clinical Genetics, EA 4666, CHU d'Amiens, Université de Picardie Jules Verne, Amiens, France;2. Department of Human Genetics, RWTH University Hospital, Aachen, Germany;3. Department of Ophthalmology, CHU d'Amiens, Amiens, France;4. Department of Ophthalmology, RWTH University Hospital, Aachen, Germany;5. Department of Pathology, Amiens, France;6. Department of Pediatrics, RWTH University Hospital, Aachen, Germany;7. Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany;8. Department of Paediatric Pneumology, Amiens, France;9. Child Neuropsychology Section, Department of Child and Adolescent Psychiatry and Psychotherapy, RWTH University Hospital, Aachen, Germany;10. Institute of Experimental Haematology and Transfusion Medicine, University Clinic Bonn, Bonn, Germany;11. Department of Paediatric Cardiology, Amiens, France;12. Collaborative Innovation Center of Chemical Science and Engineering (Tianjin) and College of Life Sciences, Nankai University, Tianjin, China;13. Laboratory of Cellular and Molecular Physiology, EA 4667, UFR of Sciences, Amiens, France
Abstract:
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