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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Int J Mol Sci
Egile Nagusiak: Duarte, Ana Joana, Ribeiro, Diogo, Moreira, Luciana, Amaral, Olga
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI 2018
Gaiak:
Sarrera elektronikoa: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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