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Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analyses.

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第一作者： Encarnación,Medina-Carmona

第一单位： Department of Physical Chemistry, University of Granada, Granada, Spain.;Department of Experimental Medicine, University of Perugia, Piazzale Gambuli, Perugia.

作者： Encarnación,Medina-Carmona ^[1] ; Isabel,Betancor-Fernández ^[2] ; Jaime,Santos ^[3] ; Noel,Mesa-Torres ^[4] ; Silvia,Grottelli ^[5] ; Cristina,Batlle ^[3] ; Athi N,Naganathan ^[6] ; Elisa,Oppici ^[7] ; Barbara,Cellini ^[5] ; Salvador,Ventura ^[3] ; Eduardo,Salido ^[2] ; Angel L,Pey ^[4]

作者单位： Department of Physical Chemistry, University of Granada, Granada, Spain.;Department of Experimental Medicine, University of Perugia, Piazzale Gambuli, Perugia. ^[1] Centre for Biomedical Research on Rare Diseases, Hospital Universitario de Canarias, Tenerife, Spain. ^[2] Institut de Biotecnologia i de Biomedicina and Departament de Bioquímica i Biologia Molecular, Universitat Autónoma de Barcelona, Bellaterra, Spain. ^[3] Department of Physical Chemistry, University of Granada, Granada, Spain. ^[4] Department of Experimental Medicine, University of Perugia, Piazzale Gambuli, Perugia. ^[5] Department of Biotechnology, Bhupat & Jyoti Mehta School of Biosciences, Indian Institute of Technology Madras (IITM), Chennai, India. ^[6] Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, Strada Le Grazie, Verona, Italy. ^[7]