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Autosomal recessive mutations in theCOL2A1gene cause severe spondyloepiphyseal dysplasia

Journal Article published 8 Sep 2014 in Clinical Genetics volume 87 issue 5 on pages 496 to 498

Research funded by Foundation Frimurare Barnhuset in Stockholm | Foundation Promobilia | Foundation Samariten | Kronprinsessan Lovisas and Axel Tiellmans Minnesfond | Regional agreement on medical training and clinical research (ALF) between Stockholm County Council and Karolinska Institutet | Vetenskapsrådet

Authors: E. Tham, G. Nishimura, S. Geiberger, E. Horemuzova, D. Nilsson, A. Lindstrand, A. Hammarsjö, M. Armenio, O. Mäkitie, B. Zabel, A. Nordgren, M. Nordenskjöld, G. Grigelioniene