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In the absence of experimental data structural, functional and evolutionary analysis provides a prediction and the probability that a given mutation is responsive to the drug.<\/jats:p>","DOI":"10.1186\/1750-1172-8-111","type":"journal-article","created":{"date-parts":[[2013,7,24]],"date-time":"2013-07-24T19:58:34Z","timestamp":1374695914000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones"],"prefix":"10.1186","volume":"8","author":[{"given":"Marco","family":"Cammisa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Correra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina","family":"Andreotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Vittoria","family":"Cubellis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,7,24]]},"reference":[{"key":"610_CR1","unstructured":"HGMD: [http:\/\/www.hgmd.cf.ac.uk\/ac\/index.php]"},{"key":"610_CR2","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1186\/1750-1172-7-91","volume":"7","author":"DP Germain","year":"2012","unstructured":"Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Barisoni L, Jennette CJ, Bragat A, Castelli J, Sitaraman S, et al.: Safety and pharmacodynamic effects of a pharmacological chaperone on alpha-galactosidase a activity and globotriaosylceramide clearance in fabry disease: report from two phase 2 clinical studies. 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