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Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones
Fabry_CEP is a user-friendly web-application designed to help clinicians Choose Eligible Patients for the therapy with pharmacological chaperones. It provides a database and a predictive tool to evaluate the responsiveness of lysosomal alpha-galactosidase mutants to a small molecule drug, namely 1-D...
Autores principales: | Cammisa, Marco, Correra, Antonella, Andreotti, Giuseppina, Cubellis, Maria Vittoria |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3729670/ https://www.ncbi.nlm.nih.gov/pubmed/23883437 http://dx.doi.org/10.1186/1750-1172-8-111 |
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