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In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses

In order to delineate a better approach to functional studies, we have selected 23 missense mutations distributed in different domains of two lysosomal enzymes, to be studied by in silico analysis. In silico analysis of mutations relies on computational modeling to predict their effects. Various com...

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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Duarte, Ana Joana, Ribeiro, Diogo, Moreira, Luciana, Amaral, Olga
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6275066/
https://ncbi.nlm.nih.gov/pubmed/30384423
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms19113409
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