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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Detalles Bibliográficos
Autores principales: Duarte, Ana Joana, Ribeiro, Diogo, Moreira, Luciana, Amaral, Olga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275066/
https://www.ncbi.nlm.nih.gov/pubmed/30384423
http://dx.doi.org/10.3390/ijms19113409

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275066/
https://www.ncbi.nlm.nih.gov/pubmed/30384423
http://dx.doi.org/10.3390/ijms19113409

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