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Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.

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作者单位: Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. [1] Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy. [2] Unit of Metabolic Diseases and Medical Genetics, University Hospital, P.O. Giovanni XXIII Hospital, Bari, Italy. [3] Unit of Biostatistics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. [4] Unit of Molecular Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. [5] Department of Clinical and Molecular Medicine, Sapienza University of Rome, Rome, Italy. [6] Unit of Medical Genetics, University of Catania, Catania, Italy. [7] Unit of Clinical Genetics, Department of Women's and Children's Health, University of Padua, Padua, Italy. [8] Dipartimento di Oncoematologia, U.O.C Laboratorio di Genetica Medica, Fondazione Policlinico di Tor Vergata, Rome, Italy. [9] Unit of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. [10] Division of Orthopedics and Traumatology, Azienda Socio Sanitaria Territoriale Gaetano Pini, Milan, Italy. [11] Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy. [12] Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata (IDI) IRCCS, Rome, Italy. [13]
DOI 10.1093/hmg/ddz046
PMID 30806661
发布时间 2020-03-30
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Human molecular genetics

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