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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...

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Detalles Bibliográficos
Autores principales: Cammisa, Marco, Correra, Antonella, Andreotti, Giuseppina, Cubellis, Maria Vittoria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
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